Clinical, demographic, and laboratory characteristics of children with nephrolithiasis.

PubMed

Sas, David J; Becton, Lauren J; Tutman, Jeffrey; Lindsay, Laura A; Wahlquist, Amy H

2016-06-01

While the incidence of pediatric kidney stones appears to be increasing, little is known about the demographic, clinical, laboratory, imaging, and management variables in this patient population. We sought to describe various characteristics of our stone-forming pediatric population. To that end, we retrospectively reviewed the charts of pediatric patients with nephrolithiasis confirmed by imaging. Data were collected on multiple variables from each patient and analyzed for trends. For body mass index (BMI) controls, data from the general pediatrics population similar to our nephrolithiasis population were used. Data on 155 pediatric nephrolithiasis patients were analyzed. Of the 54 calculi available for analysis, 98 % were calcium based. Low urine volume, elevated supersaturation of calcium phosphate, elevated supersaturation of calcium oxalate, and hypercalciuria were the most commonly identified abnormalities on analysis of 24-h urine collections. Our stone-forming population did not have a higher BMI than our general pediatrics population, making it unlikely that obesity is a risk factor for nephrolithiasis in children. More girls presented with their first stone during adolescence, suggesting a role for reproductive hormones contributing to stone risk, while boys tended to present more commonly at a younger age, though this did not reach statistical significance. These intriguing findings warrant further investigation.

Clinical effectiveness in the diagnosis and acute management of pediatric nephrolithiasis.

PubMed

Van Batavia, Jason P; Tasian, Gregory E

2016-12-01

The incidence of pediatric nephrolithiasis has risen over the past few decades leading to a growing public health burden. Children and adolescents represent a unique patient population secondary to their higher risks from radiation exposure as compared to adults, high risk of recurrence, and longer follow up time given their longer life expectancies. Ultrasound imaging is the first-line modality for diagnosing suspected nephrolithiasis in children. Although data is limited, the best evidence based medicine supports the use of alpha-blockers as first-line MET in children, especially when stones are small and in a more distal ureteral location. Surgical management of pediatric nephrolithiasis is similar to that in adults with ESWL and URS first-line for smaller stones and PCNL reserved for larger renal stone burden. Clinical effectiveness in minimizing risks in children and adolescents with nephrolithiasis centers around ED pathways that limit CT imaging, strict guidance to ALARA principles or use of US during surgical procedures, and education of both patients and families on the risks of repeat ionizing radiation exposures during follow up and acute colic events. Copyright © 2016 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

Urinary neutrophil gelatinase-associated lipocalin, a biomarker for systemic inflammatory response syndrome in patients with nephrolithiasis.

PubMed

Zhu, Wei; Liu, Min; Wang, Guang-Chun; Che, Jian-Ping; Xu, Yun-Fei; Peng, Bo; Zheng, Jun-Hua

2014-03-01

The objective of this study was to determine the diagnostic value of neutrophil gelatinase-associated lipocalin (NGAL), C-reactive protein (CRP), and procalcitonin (PCT) in the prognosis of patients presenting with the systemic inflammatory response syndrome (SIRS) with nephrolithiasis. Urine NGAL protein levels were measured by enzyme-linked immunosorbent assay in 87 patients presenting with nephrolithiasis who were diagnosed as SIRS. Additionally, 52 patients presenting with nephrolithiasis but without urinary tract infection and 30 healthy controls were also included in the study. Levels of serum CRP and PCT were also taken into consideration. Median urinary NGAL levels were significantly increased in the SIRS cohorts compared with nephrolithiasis without urinary tract infection patients (4.28 ng/mL versus 2.69 ng/mL, P < 0.001), and NGAL was markedly elevated even in the early stage of SIRS (3.23 ng/mL versus 2.69 ng/mL, P < 0.001). According to the receiver-operating characteristic analysis, NGAL demonstrated a high diagnostic value compared with either PCT or CRP. In the later stage of SIRS, NGAL remained a highly sensitive (76.8%) and specific (86.5%) diagnostic marker compared with either PCT or CRP. Moreover, the area under the curves of NGAL (0.822) were also superior to those seen in either PCT (0.657) or CRP (0.761). Urinary NGAL is a highly sensitive and specific predictor of SIRS for patients presenting with nephrolithiasis. Further study of NGAL as a reliable biomarker of SIRS is required. Copyright © 2014 Elsevier Inc. All rights reserved.

[Psychological aspects of treating staghorn nephrolithiasis using percutaneous and retrograde nephrolithotripsy].

PubMed

Podoinitsyn, A A; Dutov, V V

2016-11-01

To investigate the level of anxiety and the severity of asthenic state in patients with staghorn nephrolithiasis treated by of minimally invasive therapies - percutaneous nephrolithotripsy (PNLT) and retrograde nephrolithotripsy (RNLT). This study analyzed the psychological state of 150 patients with staghorn nephrolithiasis aged 25 to 75 years before and after PNLT and RNLT. Testing was performed at baseline, at 5-7 day of hospital stay (average time of preparing for surgery) and after treatment with the use of various questionnaires: Anxiety Scale, Asthenic conditions scale and Pain questionnaire. The follow-up findings shower positive changes, including reduction in the level of anxiety and severity of asthenia in patients of different age groups. The decrease in anxiety level and severity of fatigue was associated with decreased rates of neuropathic component of pain. The psychological state of patients with staghorn nephrolithiasis depends on the characteristics of minimally invasive methods of treatment and requires attending physicians and medical personnel to take into consideration the mental and emotional state of patients.

Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.

PubMed

Phulwani, Priya; Bergwitz, Clemens; Jaureguiberry, Graciana; Rasoulpour, Majjid; Estrada, Elizabeth

2011-03-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient's mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2-6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. Copyright © 2011 Wiley-Liss, Inc.

Mucin 4 Gene Silencing Reduces Oxidative Stress and Calcium Oxalate Crystal Formation in Renal Tubular Epithelial Cells Through the Extracellular Signal-Regulated Kinase Signaling Pathway in Nephrolithiasis Rat Model.

PubMed

Sun, Ling; Zou, Lu-Xi; Wang, Jie; Chen, Ting; Han, Yu-Chen; Zhu, Dong-Dong; Zhuo, Shi-Chao

2018-05-25

Nephrolithiasis plagues a great number of patients all over the world. Increasing evidence shows that the extracellular signal-regulated kinase (ERK) signaling pathway and renal tubular epithelial cell (RTEC) dysfunction and attrition are central to the pathogenesis of kidney diseases. Mucin 4 (MUC4) is reported as an activator of ERK signaling pathway in epithelial cells. In this study, using rat models of calcium oxalate (CaOx) nephrolithiasis, the present study aims to define the roles of MUC4 and ERK signaling pathway as contributors to oxidative stress and CaOx crystal formation in RTEC. Data sets of nephrolithiasis were searched using GEO database and a heat flow map was drawn. Then MUC4 function was predicted. Wistar rats were prepared for the purpose of model establishment of ethylene glycol and ammonium chloride induced CaOx nephrolithiasis. In order to assess the detailed regulatory mechanism of MUC4 silencing on the ERK signaling pathway and RTEC, we used recombinant plasmid to downregulate MUC4 expression in Wistar rat-based models. Samples from rat urine, serum and kidney tissues were reviewed to identify oxalic acid and calcium contents, BUN, Cr, Ca2+ and P3+ levels, calcium crystal formation in renal tubules and MUC4 positive expression rate. Finally, RT-qPCR, Western blot analysis, and ELISA were employed to access oxidative stress state and CaOx crystal formation in RTEC. Initially, MUC4 was found to have an influence on the process of nephrolithiasis. MUC4 was upregulated in the CaOx nephrolithiasis model rats. We proved that the silencing of MUC4 triggered the inactivation of ERK signaling pathway. Following the silencing of MUC4 or the inhibition of ERK signaling pathway, the oxalic acid and calcium contents in rat urine, BUN, Cr, Ca2+ and P3+ levels in rat serum, p-ERK1/2, MCP-1 and OPN expressions in RTEC and H2O2 and MDA levels in the cultured supernatant were downregulated, but the GSH-Px, CAT and SOD levels in the cultured supernatant were increased. Moreover, MUC4 silencing or ERK signaling pathway inactivation may decrease the formation of CaOx crystals. Taken together, silencing of MUC4 can inactivate the ERK signaling pathway and further restrain oxidative stress and CaOx crystal formation in RTEC. Thus, MUC4 represents a potential investigative focus target in nephrolithiasis. © 2018 The Author(s). Published by S. Karger AG, Basel.

Identification, Characterisation and Clinical Development of the New Generation of Breast Cancer Susceptibility Alleles

DTIC Science & Technology

2010-03-01

amino acid substitution in this gene has been associated with uric acid nephrolithiasis (32). Recent GWAS have identified another variant within this...Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate. Am J Hum Genet 72

Type 2 Diabetes and Uric Acid Nephrolithiasis

NASA Astrophysics Data System (ADS)

Maalouf, Naim M.

2008-09-01

Type 2 diabetes is associated with an increased propensity for uric acid nephrolithiasis. In individuals with diabetes, this increased risk is due to a lower urine pH that results from obesity, dietary factors, and impaired renal ammoniagenesis. The epidemiology and pathogenesis of uric acid stone disease in patients with diabetes are hereby reviewed, and potential molecular mechanisms are proposed.

Personalized Intervention in Monogenic Stone Formers.

PubMed

Policastro, Lucas J; Saggi, Subodh J; Goldfarb, David S; Weiss, Jeffrey P

2017-10-20

Treatment of a first-time renal stone consists of acute management followed by medical efforts to prevent stone recurrence. Although nephrolithiasis is roughly 50% heritable, the presence of a family history usually does not affect treatment since most stone disease is regarded as polygenic, ie not attributable to a single gene. Recent evidence has suggested that single mutations could be responsible for a larger proportion of renal stones than previously thought. This intriguing possibility holds the potential to change the management paradigm in stone prevention from metabolically directed therapy to more specific approaches informed by genetic screening and testing. This review synthesizes new findings concerning monogenic kidney stone disease, and provides a concise and clinically useful reference for monogenic causes. It is expected that increased awareness of these etiologies will lead to increased use of genetic testing in recurrent stone formers and further research into the prevalence of monogenic stone disease. We assembled a complete list of genes known to cause or influence nephrolithiasis based on recent reviews and commentaries. We then comprehensively searched PubMed® and Google Scholar™ for all research on each gene having a pertinent role in nephrolithiasis. We determined which genes could be considered monogenic causes of nephrolithiasis. One gene, ALPL, was excluded since nephrolithiasis is a relatively minor aspect of the disorder associated with the gene (hypophosphatasia). We summarized selected studies and assembled clinically relevant details. A total of 27 genes were reviewed in terms of recent findings, mode of inheritance of stone disease, known or supposed prevalence of mutations in the general population of stone patients and specific therapies or considerations. There is a distinct opportunity for increased use of genetic testing to improve the lives of pediatric and adult stone patients. Several genes first reported in association with rare disease may be loci for novel mutations, heterozygous disease and forme frustes as causes of stones in the broader population. Cases of idiopathic nephrolithiasis should be considered as potentially having a monogenic basis. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Narcotic Use and Postoperative Doctor Shopping by Patients with Nephrolithiasis Requiring Operative Intervention: Implications for Patient Safety.

PubMed

Kappa, Stephen F; Green, Elizabeth A; Miller, Nicole L; Herrell, Stanley D; Mitchell, Christopher R; Mir, Hassan R; Resnick, Matthew J

2016-09-01

We sought to determine perioperative patterns of narcotic use and the prevalence of postoperative doctor shopping among patients with nephrolithiasis requiring operative management. We retrospectively reviewed the records of consecutive patients residing in Tennessee who required ureteroscopy with laser lithotripsy for nephrolithiasis at a single institution from January to December 2013. Using the Tennessee CSMD (Controlled Substances Medication Database) patients were categorized by the number of postoperative narcotic providers. Doctor shopping behavior was identified as any patient seeking more than 1 narcotic provider within 3 months of surgery. Demographic and clinical characteristics associated with doctor shopping behavior were identified. During the study period 200 eligible patients underwent ureteroscopy with laser lithotripsy for nephrolithiasis, of whom 48 (24%) were prescribed narcotics by more than 1 provider after surgery. Compared to those receiving narcotics from a single provider, patients with multiple narcotic providers were younger (48.1 vs 54.2 years, p <0.001), less educated (high school education or less in 83.3% vs 58.7%, p = 0.014), more likely to have a history of mental illness (37.5% vs 16%, p <0.01) and more likely to have undergone prior stone procedures (66% vs 42%, p <0.01). Additionally, these patients demonstrated more frequent preoperative narcotic use (87.5% vs 63.2%), longer postoperative narcotic use (39.1 vs 6.0 days) and a higher morphine equivalent dose per prescription (44.7 vs 35.2 dose per day, each p <0.001). Postoperative doctor shopping is common among patients with nephrolithiasis who require operative management. Urologists should be aware of available registry data to decrease the likelihood of redundant narcotic prescribing. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.

PubMed

Bhesania, Dhvani; Arora, Ankit; Kapoor, Sonali

2015-09-01

Numerous cases of enamel renal syndrome have been previously reported. Various terms, such as enamel renal syndrome, amelogenesis imperfecta and gingival fibromatosis syndrome, and enamel-renal-gingival syndrome, have been used for patients presenting with the dental phenotype characteristic of this condition, nephrocalcinosis or nephrolithiasis, and gingival findings. This report describes a case of amelogenesis imperfecta of the enamel agenesis variety with nephrolithiasis in a 21-year-old male patient who complained of small teeth. The imaging modalities employed were conventional radiography, cone-beam computed tomography, and renal sonography. Such cases are first encountered by dentists, as other organ or metabolic diseases are generally hidden. Hence, cases of amelogenesis imperfecta should be subjected to advanced diagnostic modalities, incorporating both dental and medical criteria, in order to facilitate comprehensive long-term management.

Cholelithiasis and Nephrolithiasis in HIV-Positive Patients in the Era of Combination Antiretroviral Therapy

PubMed Central

Lin, Kuan-Yin; Liao, Sih-Han; Liu, Wen-Chun; Cheng, Aristine; Lin, Shu-Wen; Chang, Sui-Yuan; Tsai, Mao-Song; Kuo, Ching-Hua; Wu, Mon-Ro; Wang, Hsiu-Po; Hung, Chien-Ching; Chang, Shan-Chwen

2015-01-01

Objectives This study aimed to describe the epidemiology and risk factors of cholelithiasis and nephrolithiasis among HIV-positive patients in the era of combination antiretroviral therapy. Methods We retrospectively reviewed the medical records of HIV-positive patients who underwent routine abdominal sonography for chronic viral hepatitis, fatty liver, or elevated aminotransferases between January 2004 and January 2015. Therapeutic drug monitoring of plasma concentrations of atazanavir was performed and genetic polymorphisms, including UDP-glucuronosyltransferase (UGT) 1A1*28 and multidrug resistance gene 1 (MDR1) G2677T/A, were determined in a subgroup of patients who received ritonavir-boosted or unboosted atazanavir-containing combination antiretroviral therapy. Information on demographics, clinical characteristics, and laboratory testing were collected and analyzed. Results During the 11-year study period, 910 patients who underwent routine abdominal sonography were included for analysis. The patients were mostly male (96.9%) with a mean age of 42.2 years and mean body-mass index of 22.9 kg/m2 and 85.8% being on antiretroviral therapy. The anchor antiretroviral agents included non-nucleoside reverse-transcriptase inhibitors (49.3%), unboosted atazanavir (34.4%), ritonavir-boosted lopinavir (20.4%), and ritonavir-boosted atazanavir (5.5%). The overall prevalence of cholelithiasis and nephrolithiasis was 12.5% and 8.2%, respectively. Among 680 antiretroviral-experienced patients with both baseline and follow-up sonography, the crude incidence of cholelithiasis and nephrolithiasis was 4.3% and 3.7%, respectively. In multivariate analysis, the independent factors associated with incident cholelithiasis were exposure to ritonavir-boosted atazanavir for >2 years (adjusted odds ratio [AOR], 6.29; 95% confidence interval [CI], 1.12–35.16) and older age (AOR, 1.04; 95% CI, 1.00–1.09). The positive association between duration of exposure to ritonavir-boosted atazanavir and incident cholelithiasis was also found (AOR, per 1-year exposure, 1.49; 95% CI, 1.05–2.10). The associated factors with incident nephrolithiasis were hyperlipidemia (AOR, 3.97; 95% CI, 1.32–11.93), hepatitis B or C coinfection (AOR, 3.41; 95% CI, 1.09–10.62), and exposure to abacavir (AOR, 12.01; 95% CI, 1.54–93.54). Of 180 patients who underwent therapeutic drug monitoring of plasma atazanavir concentrations and pharmacogenetic investigations, we found that the atazanavir concentrations and UGT 1A1*28 and MDR1 G2677T/A polymorphisms were not statistically significantly associated with incident cholelithiasis and nephrolithiasis. Conclusions In HIV-positive patients in the era of combination antiretroviral therapy, a high prevalence of cholelithiasis and nephrolithiasis was observed, and exposure to ritonavir-boosted atazanavir for >2 years was associated with incident cholelithiasis. PMID:26360703

Nephrolithiasis in renal tubular acidosis.

PubMed

Buckalew, V M

1989-03-01

Renal tubular acidosis is a term applied to several conditions in which metabolic acidosis is caused by specific defects in renal tubular hydrogen ion secretion. Three types of renal tubular acidosis generally are recognized based on the nature of the tubular defect. Nephrolithiasis occurs only in type I renal tubular acidosis, a condition marked by an abnormality in the generation and maintenance of a hydrogen ion gradient by the distal tubule. A forme fruste of type I renal tubular acidosis has been described in which the characteristic defect in distal hydrogen ion secretion occurs in the absence of metabolic acidosis (incomplete renal tubular acidosis). Type I renal tubular acidosis is a heterogeneous disorder that may be hereditary, idiopathic or secondary to a variety of conditions. Secondary type I renal tubular acidosis in sporadic cases is associated most commonly with autoimmune diseases, such as Sjögren's syndrome and systemic lupus erythematosus, and it occurs more frequently in women than men. Nephrolithiasis, which may occur in any of the subsets of type I renal tubular acidosis, accounts for most of the morbidity in adults and adolescents. Major risk factors for nephrolithiasis include alkaline urine, hypercalciuria and hypocitraturia. In addition, we found hyperuricosuria in 21 per cent of the patients with type I renal tubular acidosis with nephrolithiasis. The most frequently occurring risk factor, hypocitraturia, is due to decreased filtered load and/or to increased tubular reabsorption of filtered citrate. While increased tubular reabsorption may be due to systemic acidosis, hypocitraturia occurs in incomplete renal tubular acidosis. Furthermore, alkali therapy (either bicarbonate or citrate salts) increases citrate excretion in complete and incomplete type I renal tubular acidosis. These data suggest that hypocitraturia in type I renal tubular acidosis may be due to a defect in proximal tubule function. Hypercalciuria appears to have 2 causes. It may be due to metabolic acidosis, usually in children with a hereditary defect in urine acidification. In other cases familial idiopathic hypercalciuria causes nephrocalcinosis and nephrolithiasis resulting in distal tubular damage and type I renal tubular acidosis. In these latter cases hypercalciuria is present in complete and incomplete type I renal tubular acidosis. Potassium citrate appears to reduce calcium excretion in both types of hypercalciuric type I renal tubular acidosis.(ABSTRACT TRUNCATED AT 400 WORDS)

Medical therapy, calcium oxalate urolithiasis

NASA Technical Reports Server (NTRS)

Ruml, L. A.; Pearle, M. S.; Pak, C. Y.

1997-01-01

The development of diagnostic protocols that identify specific risk factors for calcium oxalate nephrolithiasis has led to the formulation of directed medical regimens that are aimed at correcting the underlying metabolic disturbances. Initiation of these treatment programs has reduced markedly the rate of stone formation in the majority of patients who form stones. This article discusses the rationale that underlies the choice of medical therapy for the various pathophysiologic causes of calcium oxalate nephrolithiasis and the appropriate use of available medications.

Comparison of ultrasound versus computed tomography for the detection of kidney stones in the pediatric population: a clinical effectiveness study.

PubMed

Roberson, Nathaniel P; Dillman, Jonathan R; O'Hara, Sara M; DeFoor, William R; Reddy, Pramod P; Giordano, Richard M; Trout, Andrew T

2018-07-01

The incidence of pediatric nephrolithiasis in the United States is increasing. There is a paucity of literature comparing the diagnostic performance of computed ultrasound (US) to tomography (CT) in the pediatric population. To determine the diagnostic performance of renal US for nephrolithiasis in children using a clinical effectiveness approach. Institutional review board approval with a waiver of informed consent was obtained for this retrospective, HIPAA-complaint investigation. Billing records and imaging reports were used to identify children (≤18 years old) evaluated for nephrolithiasis by both US and unenhanced CT within 24 h between March 2012 and March 2017. Imaging reports were reviewed for presence, number, size and location of kidney stones. Diagnostic performance of US (reference standard=CT) was calculated per renal unit (left/right kidney) and per renal sector (four sectors per kidney). For sector analysis, US was considered truly positive if a stone was identified at CT in the same or an adjacent sector. There were 68 renal stones identified by CT in 30/69 patients (43%). Mean patient age was 14.7±3.6 years, and 35 were boys. For detecting nephrolithiasis in any kidney, US was 66.7% (48.8-80.8%) sensitive and 97.4% (86.8-99.9%) specific (positive predictive value=95.2% [77.3-99.8%], negative predictive value=79.2% [65.7-88.3%], positive likelihood ratio=26.0). Per renal sector, US was 59.7% (46.7-71.4%) sensitive and 97.4% (95.5-98.5%) specific (positive predictive value=72.3% [58.2-83.1%], negative predictive value=95.4% [93.2-96.9%], positive likelihood ratio=22.5). Of the 30 stones not detected by US, only 3 were >3 mm at CT. In clinical practice, US has high specificity for detecting nephrolithiasis in children but only moderate sensitivity and false negatives are common.

Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation

PubMed Central

Phulwani, Priya; Bergwitz, Clemens; Jaureguiberry, Graciana; Rasoulpour, Majjid; Estrada, Elizabeth

2015-01-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient’s mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2–6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. PMID:21344632

Evaluation and medical management of kidney stones in children.

PubMed

Tasian, Gregory E; Copelovitch, Lawrence

2014-11-01

We review the current literature on the diagnostic evaluation and dietary and pharmacological management of children with nephrolithiasis. We searched MEDLINE(®), Embase(®) and the Cochrane Library from their inceptions to March 2014 for published articles in English on kidney stones and therapy in children 0 to 18 years old. Based on review of the titles and abstracts, 110 of the 1,014 articles (11%) were potentially relevant to the diagnostic evaluation and medical management of nephrolithiasis in children. We summarized this literature and drew on studies performed in adult populations to augment areas in which no studies of sufficient quality have been performed in children, and to highlight areas in need of research. During the last 25 years the incidence of nephrolithiasis in children has increased by approximately 6% to 10% annually and is now 50 per 100,000 adolescents. Kidney stones that form during childhood have a similar composition to those that form in adulthood. Approximately 75% to 80% of stones are composed of predominantly calcium oxalate, 5% to 10% are predominantly calcium phosphate, 10% to 20% are struvite and 5% are pure uric acid. The recurrence rate of nephrolithiasis in patients with stones that form during childhood is poorly defined. Ultrasound should be used as the initial imaging study to evaluate children with suspected nephrolithiasis, with noncontrast computerized tomography reserved for those in whom ultrasound is nondiagnostic and the suspicion of nephrolithiasis remains high. Current treatment strategies for children with kidney stone disease are based largely on extrapolation of studies performed in adult stone formers and single institution cohort or case series studies of children. Tamsulosin likely increases the spontaneous passage of ureteral stones in children. Increased water intake and reduction of salt consumption should be recommended for all children with a history of kidney stones. Potassium citrate is a potentially effective medication for children with calcium oxalate stones and concomitant hypocitraturia, as well as children with uric acid stones. However, long-term compliance with therapy and the effect on decreasing stone recurrence in children are unknown. Based largely on efficacy in adult populations, thiazide diuretics should be considered in the treatment of children with calcium based stones and persistent hypercalciuria refractory to reductions in salt intake. The incidence of kidney stone disease in children is increasing, yet few randomized clinical trials or high quality observational studies have assessed whether dietary or pharmacological interventions decrease the recurrence of kidney stones in children. Collaborative efforts and randomized clinical trials are needed to determine the efficacy and effectiveness of alternative treatments for children with nephrolithiasis, particularly those with calcium oxalate stones and concomitant hypercalciuria and hypocitraturia. Additional areas in need of study are the optimal length of time for a trial of stone passage in children, the cost-effectiveness of medical expulsive therapy vs analgesics alone, and the size and location of stones for which medical expulsive therapy is most effective. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Citrate, malate and alkali content in commonly consumed diet sodas: implications for nephrolithiasis treatment.

PubMed

Eisner, Brian H; Asplin, John R; Goldfarb, David S; Ahmad, Ardalanejaz; Stoller, Marshall L

2010-06-01

Citrate is a known inhibitor of calcium stone formation. Dietary citrate and alkali intake may have an effect on citraturia. Increasing alkali intake also increases urine pH, which can help prevent uric acid stones. We determined citrate, malate and total alkali concentrations in commonly consumed diet sodas to help direct dietary recommendations in patients with hypocitraturic calcium or uric acid nephrolithiasis. Citrate and malate were measured in a lemonade beverage commonly used to treat hypocitraturic calcium nephrolithiasis and in 15 diet sodas. Anions were measured by ion chromatography. The pH of each beverage was measured to allow calculation of the unprotonated anion concentration using the known pK of citric and malic acid. Total alkali equivalents were calculated for each beverage. Statistical analysis was done using Pearson's correlation coefficient. Several sodas contained an amount of citrate equal to or greater than that of alkali and total alkali as a lemonade beverage commonly used to treat hypocitraturic calcium nephrolithiasis (6.30 mEq/l citrate as alkali and 6.30 as total alkali). These sodas were Diet Sunkist Orange, Diet 7Up, Sprite Zero, Diet Canada Dry Ginger Ale, Sierra Mist Free, Diet Orange Crush, Fresca and Diet Mountain Dew. Colas, including Caffeine Free Diet Coke, Coke Zero, Caffeine Free Diet Pepsi and Diet Coke with Lime, had the lowest total alkali (less than 1.0 mEq/l). There was no significant correlation between beverage pH and total alkali content. Several commonly consumed diet sodas contain moderate amounts of citrate as alkali and total alkali. This information is helpful for dietary recommendations in patients with calcium nephrolithiasis, specifically those with hypocitraturia. It may also be useful in patients with low urine pH and uric acid stones. Beverage malate content is also important since malate ingestion increases the total alkali delivered, which in turn augments citraturia and increases urine pH. Copyright 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Is oxidative stress, a link between nephrolithiasis and obesity, hypertension, diabetes, chronic kidney disease, metabolic syndrome?

PubMed Central

2017-01-01

Epidemiological studies have provided the evidence for association between nephrolithiasis and a number of cardiovascular diseases including hypertension, diabetes, chronic kidney disease, metabolic syndrome. Many of the co-morbidities may not only lead to stone disease but also be triggered by it. Nephrolithiasis is a risk factor for development of hypertension and have higher prevalence of diabetes mellitus and some hypertensive and diabetic patients are at greater risk for stone formation. An analysis of the association between stone disease and other simultaneously appearing disorders, as well as factors involved in their pathogenesis, may provide an insight into stone formation and improved therapies for stone recurrence and prevention. It is our hypothesis that association between stone formation and development of co-morbidities is a result of certain common pathological features. Review of the recent literature indicates that production of reactive oxygen species (ROS) and development of oxidative stress (OS) may be such a common pathway. OS is a common feature of all cardiovascular diseases (CVD) including hypertension, diabetes mellitus, atherosclerosis and myocardial infarct. There is increasing evidence that ROS are also produced during idiopathic calcium oxalate (CaOx) nephrolithiasis. Both tissue culture and animal model studies demonstrate that ROS are produced during interaction between CaOx/calcium phosphate (CaP) crystals and renal epithelial cells. Clinical studies have also provided evidence for the development of oxidative stress in the kidneys of stone forming patients. Renal disorders which lead to OS appear to be a continuum. Stress produced by one disorder may trigger the other under the right circumstances. PMID:22213019

Is oxidative stress, a link between nephrolithiasis and obesity, hypertension, diabetes, chronic kidney disease, metabolic syndrome?

PubMed

Khan, Saeed R

2012-04-01

Epidemiological studies have provided the evidence for association between nephrolithiasis and a number of cardiovascular diseases including hypertension, diabetes, chronic kidney disease, metabolic syndrome. Many of the co-morbidities may not only lead to stone disease but also be triggered by it. Nephrolithiasis is a risk factor for development of hypertension and have higher prevalence of diabetes mellitus and some hypertensive and diabetic patients are at greater risk for stone formation. An analysis of the association between stone disease and other simultaneously appearing disorders, as well as factors involved in their pathogenesis, may provide an insight into stone formation and improved therapies for stone recurrence and prevention. It is our hypothesis that association between stone formation and development of co-morbidities is a result of certain common pathological features. Review of the recent literature indicates that production of reactive oxygen species (ROS) and development of oxidative stress (OS) may be such a common pathway. OS is a common feature of all cardiovascular diseases (CVD) including hypertension, diabetes mellitus, atherosclerosis and myocardial infarct. There is increasing evidence that ROS are also produced during idiopathic calcium oxalate (CaOx) nephrolithiasis. Both tissue culture and animal model studies demonstrate that ROS are produced during interaction between CaOx/calcium phosphate (CaP) crystals and renal epithelial cells. Clinical studies have also provided evidence for the development of oxidative stress in the kidneys of stone forming patients. Renal disorders which lead to OS appear to be a continuum. Stress produced by one disorder may trigger the other under the right circumstances.

Clinical and metabolic evaluation of patients with history of renal calculi in Qazvin, Iran.

PubMed

Charkhchian, Maliheh; Samani, Simin; Merat, Ehsan

2015-12-01

Nephrolithiasis is a common clinical disorder with significant health and economic burden. We conducted this study to evaluate clinical and metabolic parameters in adult patients with history of renal calculi. A total of 213 patients with history of nephrolithiasis participated in this study. Evaluation included the measurement of serum calcium, uric acid, parathormone, renal function tests, urinalysis, and urinary tests for cystinuria. Also, parameters such as volume, creatinine, calcium, uric acid, citrate, and oxalate levels were measured on 24-h urine. All patients underwent urinary tract system sonography. Of total patients, 52% were males and 48% females. The mean age was 45.16 ± 13.16 years. Also, 51.2% of subjects had positive family history of nephrolithiasis. The mean body mass index was (26.8 ± 4.2) kg/m(2). The mean 24-h urine biochemical profiles were volume (1,748 ± 860 ml), Ca (183 ± 115), uric acid (544 ± 220), citrate (490 ± 351), and oxalate (17.1 ± 15.3) mg/day; urine calcium to creatinine ratio (0.15 ± 0.10) mg/mg, and urine calcium to weight ratio (2.4 ± 1.7) mg/kg. While there were weak positive correlations between the body mass index and urinary calcium (r = 0.101, P < 0.001) and uric acid (r = 0.200, P < 0.001), a weak negative correlation with urine pH (r = -0.104, P < 0.001) was found. Urine calcium, uric acid, and oxalate excretion were low in our patients while urine citrate was relatively high. Higher BMI maybe a risk factor for nephrolithiasis.

Theobromine Inhibits Uric Acid Crystallization. A Potential Application in the Treatment of Uric Acid Nephrolithiasis

PubMed Central

Grases, Felix; Rodriguez, Adrian; Costa-Bauza, Antonia

2014-01-01

Purpose To assess the capacity of methylxanthines (caffeine, theophylline, theobromine and paraxanthine) to inhibit uric acid crystallization, and to evaluate their potential application in the treatment of uric acid nephrolithiasis. Materials and Methods The ability of methylxathines to inhibit uric acid nucleation was assayed turbidimetrically. Crystal morphology and its modification due to the effect of theobromine were evaluated by scanning electron microscopy (SEM). The ability of theobromine to inhibit uric acid crystal growth on calculi fragments resulting from extracorporeal shock wave lithotripsy (ESWL) was evaluated using a flow system. Results The turbidimetric assay showed that among the studied methylxanthines, theobromine could markedly inhibit uric acid nucleation. SEM images showed that the presence of theobromine resulted in thinner uric acid crystals. Furthermore, in a flow system theobromine blocked the regrowth of post-ESWL uric acid calculi fragments. Conclusions Theobromine, a natural dimethylxanthine present in high amounts in cocoa, acts as an inhibitor of nucleation and crystal growth of uric acid. Therefore, theobromine may be clinically useful in the treatment of uric acid nephrolithiasis. PMID:25333633

Bilateral uric acid nephrolithiasis and ureteral hypertrophy in a free-ranging river otter (Lontra canadensis)

USGS Publications Warehouse

Grove, Robert A.; Bildfell, Rob; Henny, Charles J.; Buhler, D.R.

2003-01-01

We report the first case of uric acid nephrolithiasis in a free-ranging river otter (Lontra canadensis). A 7 yr old male river otter collected from the Skagit River of western Washington (USA) had bilateral nephrolithiasis and severely enlarged ureters (one of 305 examined [0.33%]). The uroliths were 97% uric acid and 3% protein. Microscopic changes in the kidney were confined to expansion of renal calyces, minor loss of medullary tissue, and multifocal atrophy of the cortical tubules. No inflammation was observed in either kidney or the ureters. The ureters were enlarged due to marked hypertrophy of smooth muscle plus dilation of the lumen. Fusion of the major calyces into a single ureteral lumen was several cm distal to that of two adult male otters used as histopathologic control specimens. This case report is part of a large contaminant study of river otters collected from Oregon and Washington. It is important to understand diseases and lesions of the otter as part of our overall evaluation of this population.

Diuretics and disorders of calcium homeostasis.

PubMed

Grieff, Marvin; Bushinsky, David A

2011-11-01

Diuretics commonly are administered in disorders of sodium balance. Loop diuretics inhibit the Na-K-2Cl transporter and also increase calcium excretion. They are often used in the treatment of hypercalcemia. Thiazide diuretics block the thiazide-sensitive NaCl transporter in the distal convoluted tubule, and can decrease calcium excretion. They are often used in the treatment of nephrolithiasis. Carbonic anhydrase inhibitors decrease bicarbonate absorption and the resultant metabolic acidosis can increase calcium excretion. Their use can promote nephrocalcinosis and nephrolithiasis. This review will address the use of diuretics on disorders of calcium homeostasis. Copyright © 2011 Elsevier Inc. All rights reserved.

Hydronephrosis of one kidney

MedlinePlus

... Acute hydronephrosis; Urinary obstruction; Unilateral hydronephrosis; Nephrolithiasis - hydronephrosis; Kidney stone - hydronephrosis; Renal calculi - hydronephrosis; Ureteral calculi - hydronephrosis; ...

The general practitioner and nephrolithiasis

PubMed Central

Croppi, Emanuele; Cioppi, Federica; Vitale, Corrado

2008-01-01

Nephrolithiasis is a multifactorial disease the genesis of which is influenced by genetic, metabolic and environmental factors which determine a series of alterations in the urinary excretion of a number of substances, the cause of the disease itself. The general practitioner is often the first professional to be consulted as regards clinical and therapeutic treatment at the moment of the onset of nephrolithiasis, renal colic, inasmuch as contacted directly by the patient. His role however should not be limited to this initial phase but becomes of strategic importance throughout the subsequent diagnostic procedure; this is especially true with regard to relapses, in correctly placing the patient and, if necessary, referring him/her to the most appropriate specialist area. Running through the entire process which the lithiasic patient encounters from the onset of the disease until therapeutic treatment begins, it is clear how an appropriate initial approach can, in many cases, simplify and optimise such process. On the basis therefore of a complete medical record, and a few simple, biochemical and instrumental tests, the general practitioner is in a position to decide whether to treat the patient directly or to refer him/her to the most appropriate specialist field for investigation at a higher level. Over the last decades nephrolithiasis has progressively changed from being a disease of mainly surgical pertinence to being one of multidisciplinary medical interest in which the figure of the General Practitioner has a primary role, both during the initial diagnostic phase, by means of the correct physio-pathological identification of the problem, and in the subsequent phases as regards the choice and co-ordination of the various specialists involved. PMID:22460998

Nephrolithiasis as a presenting feature of chronic sarcoidosis.

PubMed Central

Rizzato, G.; Fraioli, P.; Montemurro, L.

1995-01-01

BACKGROUND--Renal calculi have been reported to occur in about 10% of patients with chronic sarcoidosis, but nephrolithiasis as a presentation of this disease has not been studied. METHODS--The charts of 618 patients with histologically proven sarcoidosis, seen in the period October 1978-1992, were reviewed in order to identify nephrolithiasis at presentation. RESULTS--Seventeen patients had renal calculi which preceded other manifestations of sarcoidosis. In six the occurrence of calculi suggested the diagnosis. Another eight patients had a previous history of recurrent colic with calculi. The time intervals between the first calculus and the appearance of other manifestations of sarcoidosis ranged from one to 25 years, but it was over four years in only two cases and all had at least one calculus in the year before the diagnosis was made. In the other three patients appearance of the calculus was distant in time and was probably unrelated to their sarcoidosis. In most cases the sarcoidosis was chronic and needed long term treatment with corticosteroids. Four patients had further calculi during follow up (one month to 16 years) due to an improper withdrawal of treatment decided by the patient in two cases, and to the reduction in the corticosteroid dose in the other two. CONCLUSIONS--Calculi were the presenting feature of sarcoidosis in six (1%) patients, and were the first manifestation of the disease in a total of 14 (2.2%). This frequency is over 20 times the likely incidence of calculi in the general population. Renal calculi may therefore be a rare primary manifestation of sarcoidosis. In such cases the disease is likely to be chronic and to require long term corticosteroid therapy. Sarcoidosis should always be suspected in cases of nephrolithiasis of unknown origin. PMID:7597671

Citrate and renal calculi: an update

NASA Technical Reports Server (NTRS)

Pak, C. Y.

1994-01-01

Citrate is an inhibitor of the crystallization of stone-forming calcium salts. Hypocitraturia, frequently encountered in patients with nephrolithiasis, is therefore an important risk factor for stone formation. Potassium citrate provides physiological and physicochemical correction and inhibits new stone formation, not only in hypocitraturic calcium nephrolithiasis but also in uric acid nephrolithiasis. Inhibition of stone recurrence has now been validated by a randomized trial. Ongoing research has disclosed additional causes of hypocitraturia (sodium excess, low intestinal alkali absorption, but not primary citrate malabsorption). Moreover, new insights on potassium citrate action have been shown, notably that some of absorbed citrate escapes oxidation and contributes to the citraturic response, that ingestion with a meal does not sacrifice physiological or physicochemical action, that orange juice mimics but does not completely duplicate its actions, that potassium citrate may have a beneficial bone-sparing effect, that it may reduce stone fragments following ESWL, and that danger of aluminum toxicity is not great in subjects with functioning kidneys. Finally, the research on potassium citrate has led to two promising products, calcium citrate as an optimum calcium supplement and potassium-magnesium citrate which may be superior to potassium citrate in the management of stone disease.

The growing prevalence of kidney stones and opportunities for prevention.

PubMed

Richman, Katherine; O'Bell, John; Pareek, Gyan

2014-12-02

The prevalence of kidney stones is climbing in the United States. Several investigators have demonstrated an association between metabolic syndrome and kidney stones and some have proposed a causal link. Risk factors for nephrolithiasis can be identified with a 24-hour urine collection and preventive measures can be customized to meet the needs of individual patients. Dietary and pharmacologic interventions are available to address urinary risk factors such as inadequate urine volume, hypercalcuria, hyperoxaluria, hyperuricosuria and hypocitraturia. Given that morbidity and healthcare costs associated with nephrolithiasis are on the rise, deterring stone formation is increasingly important. Multidisciplinary clinics that foster collaboration between urologists, nephrologists and dieticians offer patients effective prevention and treatment strategies.

[TITANIUM NICKELIDE TECHNOLOGIES IN MINIMALLY INVASIVE SURGERY OF KIDNEY AND UPPER URINARY TRACT].

PubMed

Feofilov, L V

2015-01-01

The most common pathology of the kidney and upper urinary tract includes nephrolithiasis, ureteral strictures and renal cysts. In the treatment of patients with these diseases, the majority of surgeons prefer minimally invasive techniques, including endoscopic surgery. The complication rate of percutaneous surgery is a major factor in encouraging the search for new treatments. We have analyzed the results of 402 x-ray-endoscopic operations performed with the use of technologies based on titanium nickelide materials in patients with nephrolithiasis, ureteral strictures and kidney cysts. The high effectiveness and reliability of porous titanium nickelide cryoapplicator was noted in control of percutaneous channel bleeding and prevention. The proposed suspension nephropexy with fine titanium granules in coexisting nephrolithiasis and nephroptosis demonstrated 1.5 times greater effectiveness compared to the traditional nephropexy, reducing duration of nephrostomy and rehabilitation by almost 3 times. The proposed methods of intubation by permanent and temporary stents with shape memory after percutaneous ureteropelvic junction stricture correction are promising in the treatment of patients with this pathology of the upper urinary tract. Application of titanium nickelide implants in simple renal cyst surgery has led to a significant increase in the effectiveness of these operations, improvement in long-term results and patients' quality of life.

Nephrolithiasis: Molecular Mechanism of Renal Stone Formation and the Critical Role Played by Modulators

PubMed Central

Aggarwal, Kanu Priya; Narula, Shifa; Kakkar, Monica

2013-01-01

Urinary stone disease is an ailment that has afflicted human kind for many centuries. Nephrolithiasis is a significant clinical problem in everyday practice with a subsequent burden for the health system. Nephrolithiasis remains a chronic disease and our fundamental understanding of the pathogenesis of stones as well as their prevention and cure still remains rudimentary. Regardless of the fact that supersaturation of stone-forming salts in urine is essential, abundance of these salts by itself will not always result in stone formation. The pathogenesis of calcium oxalate stone formation is a multistep process and essentially includes nucleation, crystal growth, crystal aggregation, and crystal retention. Various substances in the body have an effect on one or more of the above stone-forming processes, thereby influencing a person's ability to promote or prevent stone formation. Promoters facilitate the stone formation while inhibitors prevent it. Besides low urine volume and low urine pH, high calcium, sodium, oxalate and urate are also known to promote calcium oxalate stone formation. Many inorganic (citrate, magnesium) and organic substances (nephrocalcin, urinary prothrombin fragment-1, osteopontin) are known to inhibit stone formation. This review presents a comprehensive account of the mechanism of renal stone formation and the role of inhibitors/promoters in calcium oxalate crystallisation. PMID:24151593

Renal papillary necrosis

MedlinePlus

... asking your provider. Alternative Names Necrosis - renal papillae; Renal medullary necrosis Images Kidney anatomy Kidney - blood and urine flow References Bushinsky DA, Monk RD. Nephrolithiasis and nephrocalcinosis. ...

Kidney stones

MedlinePlus

... Eidman KE, et al. Recurrent nephrolithiasis in adults: comparative effectiveness of preventive medical strategies [Internet]. Rockville, MD. Agency for Healthcare Research and Quality (US) 2012; Report No.: 12-EHC049- ...

Solubility of ammonium acid urate nephroliths from bottlenose dolphins (Tursiops truncatus).

PubMed

Argade, Sulabha; Smith, Cynthia R; Shaw, Timothy; Zupkas, Paul; Schmitt, Todd L; Venn-Watson, Stephanie; Sur, Roger L

2013-12-01

Nephrolithiasis has been identified in managed populations of bottlenose dolphins (Tursiops truncatus); most of these nephroliths are composed of 100% ammonium acid urate (AAU). Several therapies are being investigated to treat and prevent nephrolithiasis in dolphins including the alkalization of urine for dissolution of nephroliths. This study evaluates the solubility of AAU nephroliths in a phosphate buffer, pH range 6.0-8.0, and in a carbonate-bicarbonate buffer, pH range 9.0-10.8. AAU nephroliths were obtained from six dolphins and solubility studies were conducted using reverse-phase high performance liquid chromatography with ultraviolet detection at 290 nm. AAU nephroliths were much more soluble in a carbonate-bicarbonate buffer, pH range 9.0-10.8 compared to phosphate buffer pH range 6.0-8.0. In the pH range 6.0-8.0, the solubility was 45% lower in potassium phosphate buffer compared to sodium phosphate buffer. When citrate was used along with phosphate in the same pH range, the solubility was improved by 13%. At pH 7 and pH 8, 150 mM ionic strength buffer was optimum for dissolution. In summary, adjustment of urinary pH alone does not appear to be a useful way to treat AAU stones in bottlenose dolphins. Better understanding of the pathophysiology of AAU nephrolithiasis in dolphins is needed to optimize kidney stone prevention and treatment.

Kidney stones and subclinical atherosclerosis in young adults: the CARDIA study.

PubMed

Reiner, Alexander P; Kahn, Arnold; Eisner, Brian H; Pletcher, Mark J; Sadetsky, Natalia; Williams, O Dale; Polak, Joseph F; Jacobs, David R; Stoller, Marshall L

2011-03-01

Recent reports suggest that nephrolithiasis and atherosclerosis share a number of risk factors. To our knowledge there has been no previous examination of the relationship between kidney stones and subclinical atherosclerotic disease. We studied the relationship between nephrolithiasis, and carotid wall thickness and carotid stenosis assessed by B-mode ultrasound in the general community using data from the CARDIA study. The CARDIA study is a United States, population based, observational study of 5,115 white and African-American men and women between the ages of 18 and 30 years at recruitment in 1985 to 1986. By the year 20 examination 200 (3.9%) CARDIA participants had reported ever having kidney stones. Symptomatic kidney stones were associated with greater carotid wall thickness measured at the year 20 examination, particularly of the internal carotid/bulb region. Using a composite dichotomous end point of carotid stenosis and/or the upper quartile of internal carotid/bulb wall thickness, the association of kidney stones with carotid atherosclerosis was significant (OR 1.6, 95% CI 1.1-2.3, p=0.01), even after adjusting for major atherosclerotic risk factors. The association between a history of kidney stones and subclinical carotid atherosclerosis in young adults adds further support to the notion that nephrolithiasis and atherosclerosis share common systemic risk factors and/or pathophysiology. Copyright © 2011 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.

PubMed

Yuen, Yuet-Ping; Lai, Chi-Kong; Tong, Gensy Mei-Wah; Wong, Ping-Nam; Wong, Francis Kim-Ming; Mak, Siu-Ka; Lo, Kin-Yee; Wong, Andrew Kui-Man; Tong, Sui-Fan; Chan, Yan-Wo; Lam, Ching-Wan

2004-01-01

Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene. The molecular basis of PH1 in three Chinese patients, two with adult-onset and one with childhood-onset recurrent nephrolithiasis, was established by analyzing the entire AGXT gene. Three novel mutations (c2T>C, c817insAG and c844C>T) and two previously reported mutations (c33insC and 679-IVS6+2delAAgt) were identified. c2T>C converts the initiation codon from ATG to ACG, which predicts significant reduction, if not complete abolition, of protein translation. c817insAG leads to a frameshift and changes the amino acid sequence after codon 274. c844C>T changes glutamine at codon 282 to a termination codon, resulting in protein truncation. This is the first report describing AGXT gene mutations in Chinese patients with PH1. AGXT genotypes cannot fully explain the clinical heterogeneity of PH1, and other factors involved in disease pathogenesis remain to be identified. Our experience emphasizes the importance of excluding PH1 in patients with recurrent nephrolithiasis to avoid delay or inappropriate management.

Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

PubMed Central

Gray, Nicola K.; Campbell, Susan; Shu, Xinhua; Sawyer, Lindsay; Richardson, William; Rechavi, Gideon; Amariglio, Ninette; Ganon, Liat; Sela, Ben-Ami; Bahat, Hilla; Goldman, Michael; Weissgarten, Joshua; Millar, Michael R.; Wright, Alan F.; Holtzman, Eliezer J.

2010-01-01

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied two families who had severe hereditary hypouricemia and did not have a URAT1 defect. We performed a genome-wide homozygosity screen and linkage analysis and identified the candidate gene SLC2A9, which encodes the glucose transporter 9 (GLUT9). Both families had homozygous SLC2A9 mutations: A missense mutation (L75R) in six affected members of one family and a 36-kb deletion, resulting in a truncated protein, in the other. In vitro, the L75R mutation dramatically impaired transport of uric acid. The mean concentration of serum uric acid of seven homozygous individuals was 0.17 ± 0.2 mg/dl, and all had a fractional excretion of uric acid >150%. Three individuals had nephrolithiasis, and three had a history of exercise-induced acute renal failure. In conclusion, homozygous loss-of-function mutations of GLUT9 cause a total defect of uric acid absorption, leading to severe renal hypouricemia complicated by nephrolithiasis and exercise-induced acute renal failure. In addition to clarifying renal handling of uric acid, our findings may provide a better understanding of the pathophysiology of acute renal failure, nephrolithiasis, hyperuricemia, and gout. PMID:19926891

Nephrolithiasis and pyelonephritis in two West Indian manatees (Trichechus manatus spp.).

PubMed

Keller, Martha; Moliner, José L; Vásquez, Grettys; Cruz, Danilo; Bello, Orestes; Costidis, Alex M; Rommel, Sentiel A; Mays, Maron B Calderwood; Gearhart, Scott

2008-07-01

Two West Indian manatees (Trichechus manatus spp.) were reported with severe emaciation. One animal was a Florida manatee from the Everglades; the other was an Antillean manatee from Cuba. On necropsy, both animals had nephrolithiasis, pyelonephritis, and moderate to severe renomegaly. Histopathology revealed multifocal to diffuse pyelonephritis, interstitial nephritis, and nephrocalcinosis. The stones were analyzed and consisted primarily of calcium carbonate. Serum chemistry values for the Florida animal revealed no renal abnormalities. The mechanism of calculus formation remains unclear in manatees. In horses, another hindgut fermenter, the most common urolith is also calcium carbonate. Urinalyses performed on manatees are very similar to those of horses (i.e., alkaline urine, low specific gravity, and calcium carbonate crystals). Formation of uroliths in manatees may have a pathogenesis similar to equine urolithiasis.

Kidney stones - self-care

MedlinePlus

... self-care; Nephrolithiasis and self-care; Stones and kidney - self-care; Calcium stones and self-care; Oxalate ... provider or the hospital because you have a kidney stone. You will need to take self-care ...

Analyte variations in consecutive 24-hour urine collections in children.

PubMed

Ellison, Jonathan S; Hollingsworth, John M; Langman, Craig B; Asplin, John R; Schwaderer, Andrew L; Yan, Phyllis; Bierlein, Maggie; Barraza, Mark A; Defoor, William R; Figueroa, T Ernesto; Jackson, Elizabeth C; Jayanthi, Venkata R; Johnson, Emilie K; Joseph, David B; Shnorhavorian, Margarett

2017-12-01

The metabolic evaluation of children with nephrolithiasis begins with a 24-h urine collection. For adults, the diagnostic yield increases with consecutive collections; however, little is known regarding the variability of multiple 24-h studies in the pediatric population. We sought to evaluate the variability of consecutive 24-h urine collection in children through a multi-institutional study hypothesizing that compared with a single collection, consecutive 24-h urine collections would reveal a greater degree of clinically useful information in the evaluation of children at risk for nephrolithiasis. Including data from six institutions, we identified children less than 18 years of age considered at risk for recurrent nephrolithiasis, undergoing metabolic evaluation. We evaluated a subset of patients performing two collections with urine creatinine varying by 10% or less during a 7-day period. Discordance between repeat collections based on normative urine chemistry values was evaluated. A total of 733 children met inclusion criteria, and in over a third both urine calcium and urine volume differed by 30% or more between samples. Urine oxalate demonstrated greater variation between collections in children <5 years than among older children (p = 0.030) while variation in other parameters did not differ by age. Discordance between repeat samples based on normative values was most common for urine oxalate (22.5%) and the derived relative supersaturation ratios for both calcium phosphate (25.1%) and calcium oxalate (20.5%). The proportion of discordant samples, based on normative thresholds, as well as variability greater ≥30% and 50%, respectively, are shown in the table. Our analysis indicates that stone risk in as many as one in four children may be misclassified if normative values of only a single 24-h urine are used. In light of these findings, repeat 24-h urine collections prior to targeted intervention to modify stone risk are advised to increase diagnostic yield in children at risk for nephrolithiasis. Copyright © 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Urinary pH as a Risk Factor for Stone Type

NASA Astrophysics Data System (ADS)

Sakhaee, Khashayar

2007-04-01

A high urinary pH is main risk factor for the calcium phosphate stone formation; however, its pathophysiologic mechanism has not been fully understood. The introduction of Topiramate in the treatment of various neurological disorders has been complicated by metabolic acidosis, significant hypocitraturia, elevated urinary pH, and calcium phosphate stone formation. This model provides a probe to investigate the pathophysiologic mechanism of calcium phosphate stone formation and perhaps to develop appropriate countermeasures in the future. On the other hand an unduly acidic urine predisposes one to uric acid nephrolithiasis. Our recent investigation linking low urinary pH, and defective renal ammoniagenesis to insulin resistance provides new knowledge to unfold the pathophysiology of uric acid nephrolithiasis. The metabolic profile leading to uric acid stone may emerge as one of the components of metabolic syndrome.

Is It Safe to Reduce Water Intake in the Overactive Bladder Population? A Systematic Review.

PubMed

Wood, Lauren N; Markowitz, Melissa A; Parameshwar, Pooja S; Hannemann, Alex J; Ogawa, Shellee L; Anger, Jennifer T; Eilber, Karyn S

2018-03-01

Overactive bladder imposes a significant socioeconomic burden on the health care system. It is a commonly held belief that increased fluid intake (8 glasses of water per day) is beneficial for health. However, increased fluid intake exacerbates overactive bladder symptoms. Thus, it is imperative that clinicians appropriately educate patients for whom increased water intake may be detrimental (women with overactive bladder), in contrast to patients with comorbidities that necessitate increased water intake (nephrolithiasis). We systematically reviewed the literature to determine the potential health advantages of increased water intake and identify specific subpopulations that need increased hydration. We systematically reviewed published articles from 1972 through 2017 on PubMed® and the Cochrane Library. The data were reviewed independently by 2 individuals. Studies were included if they explored water intake in relation to the risk of a particular disease. Level 1 evidence supported increased fluid intake in patients with nephrolithiasis. There was no available evidence to support increased fluid intake in patients with cardiovascular disease, constipation, venous thromboembolism, headaches, cognitive function or bladder cancer. Dehydration may exacerbate some conditions, specifically chronic constipation and headache intensity. Increased fluid intake may have a role in preventing stroke recurrence but not in preventing primary stroke. The available reviewed literature suggests no benefit to drinking 8 glasses of water per day in patients without nephrolithiasis. Also, excess fluid intake can exacerbate symptoms of overactive bladder. Copyright © 2018 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Novel porcine model for calcium oxalate stone formation.

PubMed

Trojan, Brandon P; Trojan, Sara J; Navetta, Andrew; Staches, Bryce; Sutton, Bryan; Filleur, Stephanie; Nelius, Thomas

2017-10-01

Mechanisms for calcium-based stone formation are not clearly delineated. Porcine are the most anatomically and physiologically congruent mammal to humans. Our objectives were to develop a cost-effective and easily reproducible porcine model for the study of calcium-based nephrolithiasis. Crossbred male pigs (n = 16) were assigned randomly to one of the following treatments: (1) control; (2) ethylene glycol (EG) + vitamin D (VD); (3) EG + ammonium chloride (AC); (4) EG + gentamicin (G); (5) EG + Lasix; (6) EG + VD + AC; (7) EG + VD + G. Treatments were administered for 28 days; blood and urine were collected on day 0, 14, and 28. At the endpoint of the study, renal tissue was collected for gross and microscopic analysis of crystal stone formation and inflammation. Stone-forming parameters were observed in serum and urine. For control versus all other treatments, by day 28, serum BUN and creatinine were less (P < 0.01), urinary creatinine, citrate and pH were greater (P < 0.01), and urinary oxalate was less (P < 0.01). Histopathological analysis of H&E staining and stone analysis revealed formation of calcium oxalate stones and crystal formation within the renal cortex and medulla for all animals except control. Nephrotoxicity was observed in one animal from treatment EG + G. The treatments explored in this experiment provided novel examples of cost-effective porcine models for the study of nephrolithiasis. EG + VD had the strongest indicators of nephrolithiasis without nephrotoxicity.

Influence of BMI in nephrolithiasis in an Appalachian pediatric population: A single-center experience.

PubMed

Murphy, Margaret O; Erpelding, Scott G; Chishti, Aftab S; Dugan, Adam; Ziada, Ali; Kiessling, Stefan G

2018-06-07

The prevalence of pediatric nephrolithiasis has increased significantly in the past 20 years. Metabolic abnormalities predisposing adults to nephrolithiasis in obese patients include increased urinary sodium and uric acid excretion as well as low urine pH; however, limited data are available in the pediatric population. The aim was to investigate whether obese pediatric patients presenting with nephrolithiasis have a unique metabolic profile similar to reported findings in obese adults with nephrolithiasis. A retrospective chart review was performed in children aged 1-18 years seen at Kentucky Children's Hospital between 2010 and 2016. Inclusion criteria included all patients with documented stones confirmed by ultrasonography or computed tomography. A total of 111 patient charts were reviewed in the study with a mean age of 11.8 ± 4.2 years. Seventy patients (63%) had a normal BMI and 41 patients (37%) were considered overweight/obese. There was no statistically significant relationship between BMI and stone recurrence. Obese patients had significantly decreased levels of urinary citrate, oxalate, magnesium, and potassium with significant elevations of urinary urea nitrogen, ammonia, and low urine pH compared with normal weight patients (Summary Figure). Several groups have reported on metabolic findings within obese and non-obese pediatric patients. A Turkish study reported increased oxalate excretion and hypocitraturia in obese patients while a Korean study also reported increased rates of hypocitraturia in recurrent stone formers. Similar to these studies, we did find significant differences in citrate within our study population; however, we found significantly lower levels of urinary oxalate in obese patients. The majority of these studies do not report an association with BMI and urine pH although this has been reported in the adult population and our findings support an inverse relationship between body mass index (BMI) and pH. Our group found a higher level of calcium phosphate stones, supporting of Eisner's findings that high BMI is associated with increased supersaturation of calcium phosphate. Limitations of our study include being a single center and retrospective in nature. Our study demonstrates differences in types of stones and urinary metabolites in an obese pediatric population suggestive of different metabolic profiles contributing to stone disease. We report similar association between BMI and urine pH, urinary potassium, and citrate. This study confirmed our primary hypothesis that obese pediatric patients would have a different urinary mineral profile as evidenced by lower levels of citrate and potassium and low urine pH; however, obese patients did not exhibit significantly elevated urinary sodium and uric acid when normalized to weight, as described in the adult population. Our study did not confirm our secondary hypothesis that stone composition would be associated with BMI status or stone recurrence. Copyright © 2018 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Kidney stones - what to ask your doctor

MedlinePlus

Nephrolithiasis - what to ask your doctor; Renal calculi - what to ask your doctor; What to ask your doctor about kidney stones ... Strategies for nonmedical management of upper urinary tract calculi. In: Wein AJ, Kavoussi LR, Partin AW, Peters ...

Nephrolithiasis as a common urinary system manifestation of inflammatory bowel diseases; a clinical review and meta-analysis.

PubMed

Ganji-Arjenaki, Mahboube; Nasri, Hamid; Rafieian-Kopaei, Mahmoud

2017-07-01

The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. For this review, we used a variety of sources by searching through Web of Science, PubMed, EMBASE, Scopus and directory of open access journals (DOAJ). Urinary complications may occur in up to 22% of patients and nephrolithiasis or renal/kidney stones have been suggested to be a common manifestation of disease in forms of uric acid, calcium phosphate or calcium oxalate. We performed a meta-analysis on five clinical trials and reported that correlation between IBD and formation of stone in renal system is positive and significant (Fix-effect model; CI: 95%, P <0.001, and randomeffect model; CI: 95%, P = 0.03). Based on the reports of the clinical trials, calcium oxalate is more prevalent in Crohn's disease (CD) than in ulcerative colitis (UC).

Kidney Calculi: Pathophysiology and as a Systemic Disorder.

PubMed

Shadman, Arash; Bastani, Bahar

2017-05-01

The pathophysiology of urinary stone formation is complex, involving a combination of metabolic, genetic, and environmental factors. Over the past decades, remarkable advances have been emerged in the understanding of the pathogenesis, diagnosis, and treatment of calcium kidney calculi. For this review, both original and review articles were found via PubMed search on pathophysiology, diagnosis, and management of urinary calculi. These resources were integrated with the authors' knowledge of the field. Nephrolithiasis is suggested to be associated with systemic disorders, including chronic kidney insufficiency, hematologic malignancies, endocrine disorders, autoimmune diseases, inflammatory bowel diseases, bone loss and fractures, hypertension, type 2 diabetes mellitus, metabolic syndrome, and vascular diseases like coronary heart diseases and most recently ischemic strokes. This is changing the perspective of nephrolithiasis from an isolated disorder to a systemic disease that justifies further research in understanding the underlying mechanisms and elaborating diagnostic-therapeutic options.

Ten-year single-center experience of the ketogenic diet: factors influencing efficacy, tolerability, and compliance.

PubMed

Wibisono, Cinthya; Rowe, Natalie; Beavis, Erin; Kepreotes, Helen; Mackie, Fiona E; Lawson, John A; Cardamone, Michael

2015-04-01

To evaluate the efficacy, tolerability, and compliance of 3 ketogenic diets, the classical ketogenic diet, medium-chain triglyceride (MCT), and modified Atkins diet. A single-center, retrospective study of 48 children with intractable epilepsy receiving ketogenic diets from 2003 to 2012. Patient demographics, epilepsy history, nutritional management, and side effects were collated. Compliance and tolerability were assessed by recording reasons for diet modification and cessation. The value of potassium citrate supplementation for preventing nephrolithiasis was reviewed. Median age at ketogenic diet initiation was 3.8 years (IQR: 2.3-7 years). The majority had intractable epilepsy, and 33 of the 48 children (69%) had epileptic encephalopathies. Three (6%) patients became seizure free, 35 (73%) reported <50%-90% reduction, and 10 (21%) had 0%-50% reduction during a 2-year period. Diet duration or ketogenic diet type did not predict reduction in seizures (P = .381; P = .272). Constipation (n = 31, 65%) was very common. Food refusal (n = 3, 6%) and poor parental compliance (n = 5, 10%) were common reasons cited for cessation. There were lower rates of side effects for modified Atkins diet. Diet cessation was greatest for MCT; however, 3 patients on MCT ceased therapy because adequate seizure control was achieved. Nephrolithiasis was reported in 1 patient before potassium citrate was used and 2 patients noncompliant with potassium citrate supplementation developed hypercalciuria. The 3 ketogenic diets were comparably effective in seizure control and generally well-tolerated. Potassium citrate supplementation is an effective prophylactic supplement for the prevention of nephrolithiasis. Crown Copyright © 2015. Published by Elsevier Inc. All rights reserved.

Study of Tomography Of Nephrolithiasis Evaluation (STONE): methodology, approach and rationale.

PubMed

Valencia, Victoria; Moghadassi, Michelle; Kriesel, Dana R; Cummings, Steve; Smith-Bindman, Rebecca

2014-05-01

Urolithiasis (kidney stones) is a common reason for Emergency Department (ED) visits, accounting for nearly 1% of all visits in the United States. Computed tomography (CT) has become the most common imaging test for these patients but there are few comparative effectiveness data to support its use in comparison to ultrasound. This paper describes the rationale and methods of STONE (Study of Tomography Of Nephrolithiasis Evaluation), a pragmatic randomized comparative effectiveness trial comparing different imaging strategies for patients with suspected urolithiasis. STONE is a multi-center, non-blinded pragmatic randomized comparative effectiveness trial of patients between ages 18 and 75 with suspected nephrolithiasis seen in an ED setting. Patients were randomized to one of three initial imaging examinations: point-of-care ultrasound, ultrasound performed by a radiologist or CT. Participants then received diagnosis and treatment per usual care. The primary aim is to compare the rate of severe SAEs (Serious Adverse Events) between the three arms. In addition, a broad range of secondary outcomes was assessed at baseline and regularly for six months post-baseline using phone, email and mail questionnaires. Excluding 17 patients who withdrew after randomization, a total of 2759 patients were randomized and completed a baseline questionnaire (n=908, 893 and 958 in the point-of-care ultrasound, radiology ultrasound and radiology CT arms, respectively). Follow-up is complete, and full or partial outcomes were assessed on over 90% of participants. The detailed methodology of STONE will provide a roadmap for comparative effectiveness studies of diagnostic imaging conducted in an ED setting. Published by Elsevier Inc.

Sulfate and thiosulfate inhibit oxalate transport via a dPrestin (Slc26a6)-dependent mechanism in an insect model of calcium oxalate nephrolithiasis.

PubMed

Landry, Greg M; Hirata, Taku; Anderson, Jacob B; Cabrero, Pablo; Gallo, Christopher J R; Dow, Julian A T; Romero, Michael F

2016-01-15

Nephrolithiasis is one of the most common urinary tract disorders, with the majority of kidney stones composed of calcium oxalate (CaOx). Given its prevalence (US occurrence 10%), it is still poorly understood, lacking progress in identifying new therapies because of its complex etiology. Drosophila melanogaster (fruitfly) is a recently developed model of CaOx nephrolithiasis. Effects of sulfate and thiosulfate on crystal formation were investigated using the Drosophila model, as well as electrophysiological effects on both Drosophila (Slc26a5/6; dPrestin) and mouse (mSlc26a6) oxalate transporters utilizing the Xenopus laevis oocyte heterologous expression system. Results indicate that both transport thiosulfate with a much higher affinity than sulfate Additionally, both compounds were effective at decreasing CaOx crystallization when added to the diet. However, these results were not observed when compounds were applied to Malpighian tubules ex vivo. Neither compound affected CaOx crystallization in dPrestin knockdown animals, indicating a role for principal cell-specific dPrestin in luminal oxalate transport. Furthermore, thiosulfate has a higher affinity for dPrestin and mSlc26a6 compared with oxalate These data indicate that thiosulfate's ability to act as a competitive inhibitor of oxalate via dPrestin, can explain the decrease in CaOx crystallization seen in the presence of thiosulfate, but not sulfate. Overall, our findings predict that thiosulfate or oxalate-mimics may be effective as therapeutic competitive inhibitors of CaOx crystallization. Copyright © 2016 the American Physiological Society.

Spontaneous ureteral rupture in a patient with systemic lupus erythematosus

DOE Office of Scientific and Technical Information (OSTI.GOV)

Benson, C.H.; Pennebaker, J.B.; Harisdangkul, V.

1983-08-01

A patient with known systemic lupus erythematosus had fever and symptoms of a lower urinary tract infection. Bone scintigraphy showed left ureteral perforation and necrosis with no demonstrable nephrolithiasis. It is speculated that this episode was due to lupus vasculitis.

24-h urine metabolic profile: is it necessary in all kidney stone formers?

PubMed

Abu-Ghanem, Yasmin; Shvero, Asaf; Kleinmann, Nir; Winkler, Harry Z; Zilberman, Dorit E

2018-06-06

A 24-h urine metabolic profile (24-UMP) is an integral part of nephrolithiasis work-up. We aimed to explore whether it can be waived under certain circumstances. We reviewed our prospective registry database of patients seen at our outpatient clinic for nephrolithiasis between the years 2010 and 2017. Data included: gender, age at first stone, body mass index (BMI), self-reported comorbidities and family history of nephrolithiasis. A 24-UMP was obtained from each patient under random diet. The following were recorded: urine volume, urinary levels of sodium, calcium, uric acid, oxalate and citrate. Presence of at least one comorbidity (i.e., hypertension/diabetes/hyperlipidemia) was defined as "associated comorbidities" (AC). Their absence was defined as "no comorbidities" (NC). Subjects were divided into two subgroups: first-time and recurrent stone formers, which were further divided into two subgroups: 1st + AC; 1st + NC; recurrent + AC; recurrent + NC. 24-UMPs have been compared between the four groups. Four hundred and fifty-seven patients were included in the study. In the AC groups, patients demonstrated higher BMI levels (p = 0.001), and were statistically significantly obese (BMI > 30, p = 0.001) and older at first stone event (p = 0.001). First formers, either with AC or NC were more likely to have low urine volume (LUV) compared with recurrent formers (72.5 vs. 59.5%, p = 0.005). In the remaining metabolic abnormalities, no such differences were observed. First-time stone formers, either with or without AC are likely to demonstrate LUV as their primary metabolic abnormality in 24-UMP. Therefore, 24-UMP may be postponed until recurrent stone event.

Nephrolithiasis, stone composition, meteorology, and seasons in Malta: Is there any connection?

PubMed

Buttigieg, Jesmar; Attard, Stephanie; Carachi, Alexander; Galea, Ruth; Fava, Stephen

2016-01-01

The effect of seasons and meteorology on the incidence of nephrolithiasis has been studied in various regions around the globe, but seldom in the Mediterranean. This retrospective analysis aims at investigating these putative effects in the Maltese Islands, whose climate is typically Mediterranean, followed by a systematic review of the literature. Submission rate and chemical composition of all kidney stones after spontaneous passage or surgical removal between January 2009 and December 2011 were analyzed according to seasons and corresponding meteorology. A total of 389 stones were analyzed. A higher stone submission rate was observed in summer compared to winter (31.6% vs. 20.8%, P = 0.0008) and in the warm period compared to the cold period (57.1% vs. 42.9%, P = 0.0001). Significant correlation was established between the monthly number of stones and mean monthly maximum temperature (r = 0.50, P = 0.002), mean monthly temperature (r = 0.49, P = 0.003) and mean monthly Humidex (r = 0.49, P = 0.007). Humidex was found to be an independent predictor for stone submission (β = 0.49, P = 0.007). The majority of stones contained calcium (83.3%), combined with oxalate (77.6%), phosphate (14.7%), and carbonate (2.8%). Some stones (11.8%) contained a mixture of >1 negatively charged molecules. Urate (11.6%), cysteine (4.6%), and ammonium-magnesium-phosphate (0.5%) constituted the rest. There was no association between chemical composition and seasons. Literature review included 25 articles. Higher ambient temperature and warm seasons were the most commonly encountered risk factors for both presentation and etiology of nephrolithiasis. A significant positive correlation was noted between ambient temperature and stone submission rate, which was significantly higher during the warm months in Malta.

A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.

PubMed

Page, Kathleen; Bergwitz, Clemens; Jaureguiberry, Graciana; Harinarayan, Chittari V; Insogna, Karl

2008-10-01

To determine if there was a genetic contribution to our patient's unusual clinical presentation of nephrolithiasis and nonhealing stress fracture. We describe a 31-year-old man who had rickets as a child and developed a femur insufficiency fracture and recurrent nephrolithiasis as an adult after moving to the United States from India. The patient's clinical course and results from radiographic and biochemical analyses are described. Analysis of the SLC34A3 gene was performed using genomic DNA samples from the patient and his family members. Before referral to the Yale Bone Center, the patient was treated with calcitriol, ergocalciferol, and phosphate. Changing therapy to phosphate alone led to clinical improvement. Genetic analysis revealed that the patient is a compound heterozygote for mutations in the SLC34A3 gene. On 1 allele, he has a previously described missense mutation in exon 7: c.575C>T (p.Ser192Leu). The other allele carries a novel nonsense mutation in exon 3: c.145C>T (p.Gln49X). One unaffected sibling is a carrier of the missense mutation and 1 sister with a history of flank pain is a carrier of the novel mutation. Hereditary hypophosphatemic rickets with hypercalciuria is a rare metabolic disorder associated with mutations in SLC34A3, the gene that encodes the renal sodium phosphate cotransporter NaPi-IIc. Although hypercalciuria is a distinguishing feature of the disease, nephrolithiasis is rarely described. The patient's atypical clinical presentation illustrates that both environmental and genetic factors potentially affect phenotypic expression of SLC34A3 mutations.

[Ultraminipercutaneous nephrolithotripsy in treating kidney stones].

PubMed

Martov, A G; Dutov, S V; Andronov, A S

2016-04-01

Percutaneous nephrolithotripsy (PNL) is the recommended method of surgical treatment of kidney stones of size greater than 2 cm. Trends in the development of modern urology have been steadily toward less traumatic method to treat nephrolithiasis - minimally invasive PNL. The present work aimed to explore of the possibilities of one of the modern variants of minimally invasive PNL - ultra-mini-PNL in treating nephrolithiasis. The study included 60 patients (mean age 45.6+/-7.2 years) with isolated kidney calculus, up to 2.0 cm or several stones with a total size of up to 2.5 cm. All patients were found to have 77 kidney stones, six of which had a size of 10 mm, 51 had a size of 11-15 mm and 20 had a size of 16-20 mm. 45% of patients had isolated renal pelvic stones and 28.3% had stones in the renal pelvis and lower calyx. All patients underwent ultra-mini-PNL using nephroscope size 7.5 Ch and tube size 12 Fr. The average duration of surgery from the moment of the puncture of the pyelocaliceal system to installing the nephrostomy tube was 65.4 minutes. Complete clearance of stones after single-stage ultra-mini-PNL was observed in 80% of cases. Nephrostomy tube was removed on days 2-3. The average postoperative hospital stay was 5.1 days. The most common complication was postoperative exacerbation of pyelonephritis (13.3% of patients), successfully treated with conservative measures. There were no cases of postoperative bleeding, accompanied by anemia and needed a blood transfusion. Considering high effectiveness and low rate of complications of ultra-mini-PNL, it can be successfully used in treating nephrolithiasis among a wide group of patients.

Identifying and managing the risks of medical ionizing radiation in endourology.

PubMed

Yecies, Todd; Averch, Timothy D; Semins, Michelle J

2018-02-01

The risks of exposure to medical ionizing radiation is of increasing concern both among medical professionals and the general public. Patients with nephrolithiasis are exposed to high levels of ionizing radiation through both diagnostic and therapeutic modalities. Endourologists who perform a high-volume of fluoroscopy guided procedures are also exposed to significant quantities of ionizing radiation. The combination of judicious use of radiation-based imaging modalities, application of new imaging techniques such as ultra-low dose computed tomography (CT) scan, and modifying use of current technology such as increasing ultrasound and pulsed fluoroscopy utilization offers the possibility of significantly reducing radiation exposure. We present a review of the literature regarding the risks of medical ionizing radiation to patients and surgeons as it pertains to the field of endourology and interventions that can be performed to limit this exposure. A review of the current state of the literature was performed using MEDLINE and PubMed. Interventions designed to limit patient and surgeon radiation exposure were identified and analyzed. Summaries of the data were compiled and synthesized in the body of the text. While no level 1 evidence exists demonstrating the risk of secondary malignancy with radiation exposure, the preponderance of evidence suggests a dose and age dependent increase in malignancy risk from ionizing radiation. Patients with nephrolithiasis were exposed to an average effective dose of 37mSv over a 2 year period. Multiple evidence-based interventions to limit patient and surgeon radiation exposure and associated risk were identified. Current evidence suggest an age and dose dependent risk of secondary malignancy from ionizing radiation. Urologists must act in accordance with ALARA principles to safely manage nephrolithiasis while minimizing radiation exposure.

Uric acid nephrolithiasis: An update.

PubMed

Cicerello, Elisa

2018-04-01

Uric acid nephrolithiasis appears to increase in prevalence. While a relationship between uric acid stones and low urinary pH has been for long known, additional association with various metabolic conditions and pathophysiological basis has recently been elucidated. Some conditions such as diabetes and metabolic syndrome disease, excessive dietary intake, and increased endogenous uric acid production and/or defect in ammoniagenesis are associated with low urinary pH. In addition, the phenomenon of global warming could result in an increase in areas with greater climate risk for uric acid stone formation. There are three therapeutic steps to be taken for management of uric acid stones: identification of urinary pH profiles, assessment of urinary volume status, and identification of disorders leading to excessive uric acid production. However, the most important factor for uric acid stone formation is acid urinary pH, which is a prerequisite for uric acid precipitation. This article reviews recent insights into the pathophysiology of uric acid stones and their management.

Prophylactic effect of coconut water (Cocos nucifera L.) on ethylene glycol induced nephrocalcinosis in male wistar rat.

PubMed

Gandhi, M; Aggarwal, M; Puri, S; Singla, S K

2013-01-01

Many medicinal plants have been employed during ages to treat urinary stones though the rationale behind their use is not well established. Thus, the present study was proposed to evaluate the effect of coconut water as a prophylactic agent in experimentally induced nephrolithiasis in a rat model. The male Wistar rats were divided randomly into three groups. Animals of group I (control) were fed standard rat diet. In group II, the animals were administrated 0.75% ethylene glycol in drinking water for the induction of nephrolithiasis. Group III animals were administrated coconut water in addition to ethylene glycol. All the treatments were continued for a total duration of seven weeks. Treatment with coconut water inhibited crystal deposition in renal tissue as well as reduced the number of crystals in urine. Furthermore, coconut water also protected against impaired renal function and development of oxidative stress in the kidneys. The results indicate that coconut water could be a potential candidate for phytotherapy against urolithiasis.

[The role of urinary tract infection in the development of recurrent nephrolithiasis].

PubMed

Khamidullin, K R; Pushkarev, A M; Tarasenko, A I; Pavlov, V N

2017-10-01

This is a literature review on the role of microbial flora in the development of recurrent urolithiasis. The authors outline pathogenetic aspects of recurrent stone formation associated bacterial flora. A number of studies reported that standard urine culture has limited sensitivity in detecting urinary tract infection.

[Peculiarities of upper urinary tract drainage during surgical treatment of staghorn and multiple nephrolithiasis].

PubMed

Imamverdiev, S B; Talybov, T A; Mamedov, R N

2014-01-01

This work was designed to evaluate methods of kidney drainage used in the surgical treatment of 250 patients with staghorn and multiple nephrolithiasis (SMN). All of them underwent open surgery that was followed by drainage of the upper urinary tract in 192 patients. Internal stenting was used in 111 cases, pyelostomy in 28, nephrostomy in 47, and internal stenting with nephrostoma in 6 cases. 91 and 20 patients had a stent inserted into the upper urinary tract in a retrograde and antegrade manner respectively. Retrograde stenting was bilateral in 14 and unilateral in 66 cases. 85% of the cases with ureter stents were followed up as outpatients for 4-5 weeks and only 10% for 6-7 weeks. Forty and ten patients with stents presented with marked dysuria and hematuria respectively. On the whole, combined antibacterial treatment with drainage of the upper urinary tract significantly improved long-term results of SMN treatment. It is concluded that nephrostomy and pyelostomy should be performed on days 14-18 and 10-12 respectively whereas the stent needs to be removed between weeks 2 and 8 after surgery.

Understanding the gut-kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers.

PubMed

Ticinesi, Andrea; Milani, Christian; Guerra, Angela; Allegri, Franca; Lauretani, Fulvio; Nouvenne, Antonio; Mancabelli, Leonardo; Lugli, Gabriele Andrea; Turroni, Francesca; Duranti, Sabrina; Mangifesta, Marta; Viappiani, Alice; Ferrario, Chiara; Dodi, Rossella; Dall'Asta, Margherita; Del Rio, Daniele; Ventura, Marco; Meschi, Tiziana

2018-04-28

The involvement of the gut microbiota in the pathogenesis of calcium nephrolithiasis has been hypothesised since the discovery of the oxalate-degrading activity of Oxalobacter formigenes , but never comprehensively studied with metagenomics. The aim of this case-control study was to compare the faecal microbiota composition and functionality between recurrent idiopathic calcium stone formers (SFs) and controls. Faecal samples were collected from 52 SFs and 48 controls (mean age 48±11). The microbiota composition was analysed through 16S rRNA microbial profiling approach. Ten samples (five SFs, five controls) were also analysed with deep shotgun metagenomics sequencing, with focus on oxalate-degrading microbial metabolic pathways. Dietary habits, assessed through a food-frequency questionnaire, and 24-hour urinary excretion of prolithogenic and antilithogenic factors, including calcium and oxalate, were compared between SFs and controls, and considered as covariates in the comparison of microbiota profiles. SFs exhibited lower faecal microbial diversity than controls (Chao1 index 1460±363vs 1658±297, fully adjusted p=0.02 with stepwise backward regression analysis). At multivariate analyses, three taxa ( Faecalibacterium , Enterobacter , Dorea ) were significantly less represented in faecal samples of SFs. The Oxalobacter abundance was not different between groups. Faecal samples from SFs exhibited a significantly lower bacterial representation of genes involved in oxalate degradation, with inverse correlation with 24-hour oxalate excretion (r=-0.87, p=0.002). The oxalate-degrading genes were represented in several bacterial species, whose cumulative abundance was inversely correlated with oxaluria (r=-0.85, p=0.02). Idiopathic calcium SFs exhibited altered gut microbiota composition and functionality that could contribute to nephrolithiasis physiopathology. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Improvements in Intracorporeal Lithotripters for Percutaneous Nephrolithotomy

NASA Astrophysics Data System (ADS)

Kuo, Ramsay L.

2007-04-01

Percutaneous nephrolithotomy (PNL) is an effective minimally invasive surgical approach for the treatment of large renal stone burden. Intracorporeal lithotripters (ICL) are utilized during PNL to fragment calculi, with some devices capable of concurrently removing fragments as well. Much progress has been made in the design of ICL devices, resulting in potentially more efficient treatment of nephrolithiasis.

Percutaneous Nephrolithotomy in Autosomal Dominant Polycystic Kidney Disease: Is it Different from Percutaneous Nephrolithotomy in Normal Kidney?

PubMed

Singh, Vishwajeet; Sinha, Rahul Janak; Gupta, Dheeraj Kumar

2013-08-01

Nephrolithiasis has been reported in 20-28% of patients, of whom 50% are symptomatic for stone disease and 20% require definite urologic intervention. The management of nephrolithiasis includes oral alkali dissolution therapy, extracorporeal shock wave lithotripsy and surgical treatment. In such patients, percutaneous nephrolithotomy (PNL) as a method of stone treatment has been reported in few cases with limited experience. The aim of this study is to present our experience of PNL in autosomal dominant polycystic kidney disease (ADPKD) and assessing the outcome results. From 2002 to 2011, 22 patients (26 renal units) suffering from ADPKD with stone were managed by PNL. Demographic characteristics, operative parameters and postoperative complications were recorded and analysed. The overall success rate of PNL was 82.1% and PNL with extracorporeal shock wave lithotripsy for clinically significant residual fragments was 92.85% respectively. The hematuria required blood transfusion (n = 9), postoperative fever due to cyst infection (n = 4) and paralytic ileus (n = 3) were recorded. The PNL in ADPKD PNL is safe and effective but have more postoperative complications such as bleeding requiring transfusions, fever due to cyst infection and paralytic ileus.

Incidental kidney stones: a single center experience with kidney donor selection

PubMed Central

Kim, Irene K.; Tan, Jane C.; Lapasia, Jessica; Elihu, Arvand; Busque, Stephan; Melcher, Marc L.

2014-01-01

The presence of kidney stones has been a relative contraindication for living donation. With the widespread use of more sensitive imaging techniques as part of the routine living donor workup, kidney stones are more frequently detected, and their clinical significance in this setting is largely unknown. Records from 325 potential kidney donors who underwent MRA or CT-angiography were reviewed; 294 proceeded to donation. The prevalence of kidney stones found incidentally during donor evaluation was 7.4% (24 of 325). Sixteen donors with stones proceeded with kidney donation. All incidental calculi were nonobstructing and small (median 2 mm; range 1–9 mm). Eleven recipients were transplanted with allografts containing stones. One recipient developed symptomatic nephrolithasis after transplantation. This recipient was found to have newly formed stones secondary to hyperoxaluria, suggesting a recipient-driven propensity for stone formation. The remaining ten recipients have stable graft function, postoperative ultrasound negative for nephrolithiasis, and no sequelae from stones. No donor developed symptomatic nephrolithiasis following donation. Judicious use of allografts with small stones in donors with normal metabolic studies may be acceptable, and careful follow-up in recipients of such allografts is warranted. PMID:22168332

Effect of Hygrophila spinosa in ethylene glycol induced nephrolithiasis in rats.

PubMed

Ingale, Kundan G; Thakurdesai, Prasad A; Vyawahare, Neeraj S

2012-01-01

Hygrophila spinosa (Acanthaceae) is traditionally used to treat urinary calculi. The present study aimed to evaluate the antiurolithiatic activity of methanolic extract of Hygrophila spinosa (Acanthaceae) in ethylene glycol induced nephrolithiasic rats. Methanolic extract of Hygrophila spinosa (HSME) (250 and 500 mg/ kg body weight) was administered orally to male Wistar albino rats. Ethylene glycol (EG) was used to induce nephrolithiasis. The parameters studied included water intake, urinary volume, urinary pH, urinary and kidney oxalate and calcium, urinary magnesium and serum uric acid. Ethylene glycol feeding resulted in hyperoxaluria as well as increased renal excretion of calcium and serum uric acid along with decreased excretion of urinary magnesium. Treatment with HSME significantly reduced the elevated urinary oxalate, urinary calcium and serum uric acid with increase in reduced urinary magnesium. Ethylene glycol feeding also resulted in increased levels of calcium and oxalate in kidney which was decreased after the treatment with HSME. The increased deposition of stone forming constituents in the kidneys of ethylene glycol treated rats was significantly lowered by treatment with HSME. The results indicate that the aerial parts of Hygrophila spinosa are endowed with antiurolithiatic activity, thereby justifying its traditional claim.

Uric Acid Nephrolithiasis: A Systemic Metabolic Disorder

PubMed Central

Moe, Orson W.

2014-01-01

Uric acid nephrolithiasis is characteristically a manifestation of a systemic metabolic disorder. It has a prevalence of about 10% among all stone formers, the third most common type of kidney stone in the industrialized world. Uric acid stones form primarily due to an unduly acid urine; less deciding factors are hyperuricosuria and a low urine volume. The vast majority of uric acid stone formers have the metabolic syndrome, and not infrequently, clinical gout is present as well. A universal finding is a low baseline urine pH plus insufficient production of urinary ammonium buffer. Persons with gastrointestinal disorders, in particular chronic diarrhea or ostomies, and patients with malignancies with a large tumor mass and high cell turnover comprise a less common but nevertheless important subset. Pure uric acid stones are radiolucent but well visualized on renal ultrasound. A 24 h urine collection for stone risk analysis provides essential insight into the pathophysiology of stone formation and may guide therapy. Management includes a liberal fluid intake and dietary modification. Potassium citrate to alkalinize the urine to a goal pH between 6 and 6.5 is essential, as undissociated uric acid deprotonates into its much more soluble urate form. PMID:25045326

HYPERCALCURIA AND METABOLIC BONE DISEASE

PubMed Central

Rosenberg, Milton L.

1954-01-01

Hypercalcuria leading to nephrocalcinosis and nephrolithiasis may be secondary to a number of causes. In most instances, the history, physical examination, a few simple laboratory tests and x-ray study of the bones will reveal the true primary diagnosis. Specific treatment, if instituted early, will result in a satisfactory response and prevent the progression of renal complications. ImagesFigure 1.Figure 2.Figure 3.Figure 4. PMID:13209371

Risk of chronic and end stage kidney disease in patients with nephrolithiasis.

PubMed

Shoag, Jonathan; Halpern, Joshua; Goldfarb, David S; Eisner, Brian H

2014-11-01

We examine kidney stone disease as a potential risk factor for chronic kidney disease, end stage kidney disease and treatment with dialysis. The NHANES (National Health and Nutrition Examination Survey) 2007-2010 database was interrogated for patients with a history of kidney stones. Demographics and comorbid conditions including age, gender, body mass index, diabetes, hemoglobin A1c, hypertension, gout and smoking were also assessed. Multivariate analysis adjusting for patient demographics and comorbidities was performed to assess differences in the prevalence of chronic kidney disease and treatment with dialysis between the 2 groups. History of nephrolithiasis was assessed with the question, "Have you ever had kidney stones?" Chronic kidney disease was defined as an estimated glomerular filtration rate of less than 60 ml/minute/1.73 m(2) and/or a urinary albumin-to-creatinine ratio greater than 30 mg/gm. Statistical calculations were performed using Stata® software with determinations of p values and 95% CI where appropriate. The study included an analysis of 5,971 NHANES participants for whom data on chronic kidney disease and kidney stones were available, of whom 521 reported a history of kidney stones. On multivariate analysis a history of kidney stones was associated with chronic kidney disease and treatment with dialysis (OR 1.50, 1.10-2.04, p = 0.013 and OR 2.37, 1.13-4.96, p = 0.025, respectively). This difference appeared to be driven by women, where a history of kidney stones was associated with a higher prevalence of chronic kidney disease (OR 1.76, 1.13-2.763, p = 0.016) and treatment with dialysis (OR 3.26, 1.48-7.16, p = 0.004). There was not a significant association between kidney stone history and chronic kidney disease or treatment with dialysis in men. Kidney stone history is associated with an increased risk of chronic kidney disease and treatment with dialysis among women even after adjusting for comorbid conditions. Large scale prospective studies are needed to further characterize the relationship between nephrolithiasis and chronic kidney disease. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Ultrasonography versus computed tomography for suspected nephrolithiasis.

PubMed

Smith-Bindman, Rebecca; Aubin, Chandra; Bailitz, John; Bengiamin, Rimon N; Camargo, Carlos A; Corbo, Jill; Dean, Anthony J; Goldstein, Ruth B; Griffey, Richard T; Jay, Gregory D; Kang, Tarina L; Kriesel, Dana R; Ma, O John; Mallin, Michael; Manson, William; Melnikow, Joy; Miglioretti, Diana L; Miller, Sara K; Mills, Lisa D; Miner, James R; Moghadassi, Michelle; Noble, Vicki E; Press, Gregory M; Stoller, Marshall L; Valencia, Victoria E; Wang, Jessica; Wang, Ralph C; Cummings, Steven R

2014-09-18

There is a lack of consensus about whether the initial imaging method for patients with suspected nephrolithiasis should be computed tomography (CT) or ultrasonography. In this multicenter, pragmatic, comparative effectiveness trial, we randomly assigned patients 18 to 76 years of age who presented to the emergency department with suspected nephrolithiasis to undergo initial diagnostic ultrasonography performed by an emergency physician (point-of-care ultrasonography), ultrasonography performed by a radiologist (radiology ultrasonography), or abdominal CT. Subsequent management, including additional imaging, was at the discretion of the physician. We compared the three groups with respect to the 30-day incidence of high-risk diagnoses with complications that could be related to missed or delayed diagnosis and the 6-month cumulative radiation exposure. Secondary outcomes were serious adverse events, related serious adverse events (deemed attributable to study participation), pain (assessed on an 11-point visual-analogue scale, with higher scores indicating more severe pain), return emergency department visits, hospitalizations, and diagnostic accuracy. A total of 2759 patients underwent randomization: 908 to point-of-care ultrasonography, 893 to radiology ultrasonography, and 958 to CT. The incidence of high-risk diagnoses with complications in the first 30 days was low (0.4%) and did not vary according to imaging method. The mean 6-month cumulative radiation exposure was significantly lower in the ultrasonography groups than in the CT group (P<0.001). Serious adverse events occurred in 12.4% of the patients assigned to point-of-care ultrasonography, 10.8% of those assigned to radiology ultrasonography, and 11.2% of those assigned to CT (P=0.50). Related adverse events were infrequent (incidence, 0.4%) and similar across groups. By 7 days, the average pain score was 2.0 in each group (P=0.84). Return emergency department visits, hospitalizations, and diagnostic accuracy did not differ significantly among the groups. Initial ultrasonography was associated with lower cumulative radiation exposure than initial CT, without significant differences in high-risk diagnoses with complications, serious adverse events, pain scores, return emergency department visits, or hospitalizations. (Funded by the Agency for Healthcare Research and Quality.).

Renal Stone Risk During Spaceflight: Assessment and Countermeasure Validation

NASA Technical Reports Server (NTRS)

Pietrzyk, Robert A.; Whitson, Peggy A.; Sams, Clarence F.; Jones, Jeffery A.; Smith, Scott M.

2009-01-01

This viewgraph presentation describes the risks of renal stone formation in manned space flight. The contents include: 1) Risk; 2) Evidence; 3) Nephrolithiasis -A Multifactorial Disease; 4) Symptoms/signs; 5) Urolithiasis and Stone Passage; 6) Study Objectives; 7) Subjects; 8) Methods; 9) Investigation Results; 10) Potassium Citrate; 11) Calcium Balance; 12) Case Study; 13) Significant Findings; 14) Risk Mitigation Strategies and Recommended Actions; and 15) Future Potential.

Surgical Management of Nephrolithiasis in the Bottlenose Dolphin: Collaborations Between the Urologist and Veterinarian.

PubMed

Sur, Roger L; Meegan, Jenny M; Smith, Cynthia R; Schmitt, Todd; L'Esperance, James; Hendrikson, Dean; Woo, Jason R

2018-01-01

Background: Cohorts of bottlenose ( Tursiops truncatus ) dolphins are at significant risk for nephrolithiasis development. However, effective surgical treatment has been limited due to absence of literature and also familiarity by both veterinarians and urologists. Recently a joint veterinarian and urology team were called to treat local bottlenose dolphins in San Diego, CA, and they performed several cases. The fund of knowledge from these cases is presented for future providers who may be asked to surgically treat these animals. Case Presentation: Two surgical kidney stone cases were performed by a joint veterinarian and physician team. An effective ureteroscopic stone removal was performed on a 39-year-old female bottlenose dolphin with 9.7 mm distal ureteral calculus. The second case involved laparoscopic ureterolithotomy on a 31-year-old male bottlenose dolphin with a 6-mm right distal ureteral calculus that previously failed retrograde ureteroscopic removal. The stone was not effectively removed laparoscopically as well due to failure to progress associated with operative machinery malfunction. The dolphin was ultimately euthanized. Conclusion: Despite suboptimal outcome in one case, extremely valuable lessons were learned during both cases. We present our surgical experiences, as well as pertinent anatomical differences, in these animals with the hope that this discussion will facilitate future surgical kidney stone treatment of dolphins.

Urine risk factors in children with calcium kidney stones and their siblings

PubMed Central

Bergsland, Kristin J.; Coe, Fredric L.; White, Mark D.; Erhard, Michael J.; DeFoor, William R.; Mahan, John D.; Schwaderer, Andrew L.; Asplin, John R.

2012-01-01

Calcium nephrolithiasis in children is increasing in prevalence and tends to be recurrent. Although children have a lower incidence of nephrolithiasis than adults, its etiology in children is less well understood; hence treatments targeted for adults may not be optimal in children. To better understand metabolic abnormalities in stone forming children, we compared chemical measurements and the crystallization properties of 24-hour urine collections from 129 stone formers matched to 105 non-stone forming siblings and 183 normal, healthy children with no family history of stones; all aged 6 to 17 years. The principal risk factor for calcium stone formation was hypercalciuria. Stone formers have strikingly higher calcium excretion along with high supersaturation for calcium oxalate and calcium phosphate, and a reduced distance between the upper limit of metastability and supersaturation for calcium phosphate, indicating increased risk of calcium phosphate crystallization. Other differences in urine chemistry that exist between adult stone formers and normal individuals such as hyperoxaluria, hypocitraturia, abnormal urine pH and low urine volume were not found in these children. Hence, hypercalciuria and a reduction in the gap between calcium phosphate upper limit of metastability and supersaturation are crucial determinants of stone risk. This highlights the importance of managing hypercalciuria in children with calcium stones. PMID:22358148

Urine risk factors in children with calcium kidney stones and their siblings.

PubMed

Bergsland, Kristin J; Coe, Fredric L; White, Mark D; Erhard, Michael J; DeFoor, William R; Mahan, John D; Schwaderer, Andrew L; Asplin, John R

2012-06-01

Calcium nephrolithiasis in children is increasing in prevalence and tends to be recurrent. Although children have a lower incidence of nephrolithiasis than adults, its etiology in children is less well understood; hence, treatments targeted for adults may not be optimal in children. To better understand metabolic abnormalities in stone-forming children, we compared chemical measurements and the crystallization properties of 24-h urine collections from 129 stone formers matched to 105 non-stone-forming siblings and 183 normal, healthy children with no family history of stones, all aged 6 to 17 years. The principal risk factor for calcium stone formation was hypercalciuria. Stone formers have strikingly higher calcium excretion along with high supersaturation for calcium oxalate and calcium phosphate, and a reduced distance between the upper limit of metastability and supersaturation for calcium phosphate, indicating increased risk of calcium phosphate crystallization. Other differences in urine chemistry that exist between adult stone formers and normal individuals such as hyperoxaluria, hypocitraturia, abnormal urine pH, and low urine volume were not found in these children. Hence, hypercalciuria and a reduction in the gap between calcium phosphate upper limit of metastability and supersaturation are crucial determinants of stone risk. This highlights the importance of managing hypercalciuria in children with calcium stones.

Metabolic syndrome: a multifaceted risk factor for kidney stones.

PubMed

Domingos, Fernando; Serra, Adelaide

2014-10-01

Kidney stones and metabolic syndrome (MetS) are common conditions in industrialized countries. There is growing evidence of associations between kidney stone disease and MetS or some of its components. The link between uric acid stones and MetS is well understood, but the link with calcium oxalate (CaOx) stones, the most common kidney stone composition, is more complex, and MetS is frequently overlooked as a risk factor for calcium nephrolithiasis. The physiopathological mechanisms of kidney stone disease in MetS are reviewed in this article. Uric acid stones are a consequence of the excessively acidic urine that results from insulin resistance. The pathophysiology of CaOx stones may include: increased excretion of lithogenesis promoters and decreased excretion of inhibitors; increased risk of Randall's plaque development; and inflammatory damage to renal epithelia by oxidative stress, as a consequence of the insulin-resistant milieu that characterizes MetS. The last mechanism contributes to the adhesion of CaOx crystals to subepithelial calcium deposits working as anchor sites where stones can grow. The predominant MetS features could determine the chemical composition of the stones in each patient. Kidney stones may be a renal manifestation of MetS and features of this syndrome should be looked for in patients with idiopathic nephrolithiasis.

Surgical Management of Nephrolithiasis in the Bottlenose Dolphin: Collaborations Between the Urologist and Veterinarian

PubMed Central

Meegan, Jenny M.; Smith, Cynthia R.; Schmitt, Todd; L'Esperance, James; Hendrikson, Dean; Woo, Jason R.

2018-01-01

Abstract Background: Cohorts of bottlenose (Tursiops truncatus) dolphins are at significant risk for nephrolithiasis development. However, effective surgical treatment has been limited due to absence of literature and also familiarity by both veterinarians and urologists. Recently a joint veterinarian and urology team were called to treat local bottlenose dolphins in San Diego, CA, and they performed several cases. The fund of knowledge from these cases is presented for future providers who may be asked to surgically treat these animals. Case Presentation: Two surgical kidney stone cases were performed by a joint veterinarian and physician team. An effective ureteroscopic stone removal was performed on a 39-year-old female bottlenose dolphin with 9.7 mm distal ureteral calculus. The second case involved laparoscopic ureterolithotomy on a 31-year-old male bottlenose dolphin with a 6-mm right distal ureteral calculus that previously failed retrograde ureteroscopic removal. The stone was not effectively removed laparoscopically as well due to failure to progress associated with operative machinery malfunction. The dolphin was ultimately euthanized. Conclusion: Despite suboptimal outcome in one case, extremely valuable lessons were learned during both cases. We present our surgical experiences, as well as pertinent anatomical differences, in these animals with the hope that this discussion will facilitate future surgical kidney stone treatment of dolphins. PMID:29756043

Metabolic syndrome and uric acid nephrolithiasis: insulin resistance in focus.

PubMed

Spatola, Leonardo; Ferraro, Pietro Manuel; Gambaro, Giovanni; Badalamenti, Salvatore; Dauriz, Marco

2018-06-01

Uric acid nephrolithiasis (UAN) is an increasingly common disease in ethnically diverse populations and constitutes about 10% of all kidney stones. Metabolic syndrome and diabetes mellitus are accounted among the major risk factors for UAN, together with environmental exposure, individual lifestyle habits and genetic predisposition. The development and overt manifestation of UAN appears to stem on the background of insulin resistance, which acts at the kidney level by reducing urinary pH, thus hampering the ability of the kidney to generate renal ammonium in response to an acid load. Unduly acidic urinary pH and overt UAN are both considered renal manifestations of insulin resistance. The mechanisms underlying increased endogenous acid production and/or defective ammonium excretion are yet to be completely understood. Although the development of UAN and, more in general, of kidney stones largely recognizes modifiable individual determining factors, the rising prevalence of diabetes, obesity and accompanying metabolic disorders calls for the identification of novel therapeutic approaches and intervention targets. This review aims at providing an updated picture of existing evidence on the relationship between insulin resistance and UAN in the context of metabolic syndrome and in light of the most recent advancements in our understanding of its genetic signature. Copyright © 2018. Published by Elsevier Inc.

47-year-old man with left leg numbness.

PubMed

Mahta, Ali; Kim, Ryan Y; Saad, Ali G; Kesari, Santosh

2013-03-01

A 47-year-old white male with a history of uveitis, hypercalcemia and nephrolithiasis presented with acute onset partial seizure. On exam he had decreased sensation to light touch on his left lower extremity. A Brain MRI revealed a right frontal mass, which was initially thought to be a metastatic lesion or a primary brain tumor. However, biopsy of the lesion revealed it to be a non-caseating granulomatous lesion consistent with neurosarcoidosis.

A novel method for predicting kidney stone type using ensemble learning.

PubMed

Kazemi, Yassaman; Mirroshandel, Seyed Abolghasem

2018-01-01

The high morbidity rate associated with kidney stone disease, which is a silent killer, is one of the main concerns in healthcare systems all over the world. Advanced data mining techniques such as classification can help in the early prediction of this disease and reduce its incidence and associated costs. The objective of the present study is to derive a model for the early detection of the type of kidney stone and the most influential parameters with the aim of providing a decision-support system. Information was collected from 936 patients with nephrolithiasis at the kidney center of the Razi Hospital in Rasht from 2012 through 2016. The prepared dataset included 42 features. Data pre-processing was the first step toward extracting the relevant features. The collected data was analyzed with Weka software, and various data mining models were used to prepare a predictive model. Various data mining algorithms such as the Bayesian model, different types of Decision Trees, Artificial Neural Networks, and Rule-based classifiers were used in these models. We also proposed four models based on ensemble learning to improve the accuracy of each learning algorithm. In addition, a novel technique for combining individual classifiers in ensemble learning was proposed. In this technique, for each individual classifier, a weight is assigned based on our proposed genetic algorithm based method. The generated knowledge was evaluated using a 10-fold cross-validation technique based on standard measures. However, the assessment of each feature for building a predictive model was another significant challenge. The predictive strength of each feature for creating a reproducible outcome was also investigated. Regarding the applied models, parameters such as sex, acid uric condition, calcium level, hypertension, diabetes, nausea and vomiting, flank pain, and urinary tract infection (UTI) were the most vital parameters for predicting the chance of nephrolithiasis. The final ensemble-based model (with an accuracy of 97.1%) was a robust one and could be safely applied to future studies to predict the chances of developing nephrolithiasis. This model provides a novel way to study stone disease by deciphering the complex interaction among different biological variables, thus helping in an early identification and reduction in diagnosis time. Copyright © 2017 Elsevier B.V. All rights reserved.

Antioxidant and Renoprotective Effects of Mushroom Extract: Implication in Prevention of Nephrolithiasis

PubMed Central

Schulman, Ariel; Chaimowitz, Matthew; Choudhury, Muhammad; Eshghi, Majid; Konno, Sensuke

2016-01-01

Background The pathogenesis of nephrolithiasis (kidney stone) remains elusive, while several therapeutic options are available but not effective as we expected. Accumulating data yet suggest that oxidative stress (generation of oxygen free radicals) may play a primary role in its occurrence. Particularly, calcium oxalate (CaOx) is a key element in the most common form (> 75%) of kidney stones, and its crystal form known as CaOx monohydrate (COM) has been shown to exert oxidative stress, facilitating CaOx stone formation. Hence, diminishing oxidative stress with certain antioxidants could be a potential strategic approach. We are interested in a bioactive extract of Poria mushroom, PE, which has been shown to have antioxidant and renoprotective activities. Accordingly, we investigated if PE might have antioxidant activity that would have implication in prevention of kidney stone formation. Methods Renal epithelial LLC-PK1 cells were employed and exposed to COM or hydrogen peroxide (H2O2) as a positive control capable of exerting oxidative stress. Possible antioxidant and protective effects of PE against oxidative stress (exerted by COM or H2O2) were assessed by cell viability test and lipid peroxidation (LPO) assay. To explore its protective mechanism, two glycolytic parameters, hexokinase (HK) activity and ATP synthesis, were examined and cell cycle analysis was also performed. Results Both H2O2 and COM led to a significant (P < 0.05) reduction in cell viability, accompanied by severe oxidative stress assessed by LPO assay. Such oxidative stress also caused the significant decline in HK activity and cellular ATP level, indicating the inhibition of glycolysis. Cell cycle analysis further indicated that oxidative stress interfered with cell cycle, inducing a G1 cell cycle arrest that presumably results in the cessation of cell proliferation. However, PE was capable of significantly preventing or diminishing all these cellular effects mediated through oxidative stress (exerted by H2O2 and COM). Conclusions The present study shows that the mushroom extract PE appears to have antioxidant and renoprotective effects against oxidative stress exerted by COM in renal cells. Therefore, PE with antioxidant activity is considered a promising natural agent that may have clinical implications in prevention of nephrolithiasis primarily induced by oxidative stress. PMID:27829958

Predictors of renal function in primary hyperparathyroidism.

PubMed

Walker, Marcella D; Nickolas, Thomas; Kepley, Anna; Lee, James A; Zhang, Chiyuan; McMahon, Donald J; Silverberg, Shonni J

2014-05-01

Current guidelines for parathyroidectomy in primary hyperparathyroidism (PHPT) include an estimated glomerular filtration rate (eGFR) less than 60 mL/min per 1.73 m(2). Although the biochemical abnormalities associated with PHPT could impair renal function, there are currently no data examining whether more severe hypercalcemia, hypercalciuria, or nephrolithiasis are associated with chronic kidney disease (CKD) in mild PHPT. This cross-sectional study evaluated predictors of renal function in PHPT. This is a case series of PHPT patients with (eGFR < 60 mL/min per 1.73 m(2)) and without (eGFR ≥ 60 mL/min per 1.73 m(2)) CKD. We studied 114 PHPT patients in a university hospital setting. We identified predictors of renal function using multiple linear regression. eGFR was associated with age, hypertension, antihypertensive medication use, fasting glucose, and 25-hydroxyvitamin D. eGFR was positively rather than negatively associated with several PHPT disease severity indices including history of nephrolithiasis, 24-hour urinary calcium excretion, and 1,25-dihydroxyvitamin D but not serum calcium or PTH levels. An eGFR less than 60 mL/min per 1.73 m(2) was observed in 15% (n = 17), all of whom had stage 3 CKD (eGFR 30-59 mL/min per 1.73 m(2)). Those with CKD were older, had higher 25-hydroxyvitamin D levels and lower 1,25-dihydroxyvitamin D levels, and were more likely to be hypertensive than those without CKD. There were no between-group (<60 vs ≥60 mL/min per 1.73 m(2)) differences in serum calcium, PTH, nephrolithiasis, or meeting surgical criteria other than eGFR. Multiple linear regression indicated that age and diastolic blood pressure were negatively associated with eGFR, whereas serum calcium, kidney stones, and alcohol use were positive predictors. Calculation of eGFR using either the Modification of Diet in Renal Disease or Chronic Kidney Disease Epidemiology Collaboration equation yielded similar results. PHPT patients with stage 3 CKD do not have biochemical or clinical evidence of more severe hyperparathyroidism compared with those without CKD. Traditional risk factors, rather than clinical or biochemical indices of PHPT, are associated with lower eGFR in mild PHPT.

Predictors of Renal Function in Primary Hyperparathyroidism

PubMed Central

Nickolas, Thomas; Kepley, Anna; Lee, James A.; Zhang, Chiyuan; McMahon, Donald J.; Silverberg, Shonni J.

2014-01-01

Context: Current guidelines for parathyroidectomy in primary hyperparathyroidism (PHPT) include an estimated glomerular filtration rate (eGFR) less than 60 mL/min per 1.73 m2. Although the biochemical abnormalities associated with PHPT could impair renal function, there are currently no data examining whether more severe hypercalcemia, hypercalciuria, or nephrolithiasis are associated with chronic kidney disease (CKD) in mild PHPT. Objective: This cross-sectional study evaluated predictors of renal function in PHPT. Design: This is a case series of PHPT patients with (eGFR < 60 mL/min per 1.73 m2) and without (eGFR ≥ 60 mL/min per 1.73 m2) CKD. Settings and Participants: We studied 114 PHPT patients in a university hospital setting. Outcome Measures: We identified predictors of renal function using multiple linear regression. Results: eGFR was associated with age, hypertension, antihypertensive medication use, fasting glucose, and 25-hydroxyvitamin D. eGFR was positively rather than negatively associated with several PHPT disease severity indices including history of nephrolithiasis, 24-hour urinary calcium excretion, and 1,25-dihydroxyvitamin D but not serum calcium or PTH levels. An eGFR less than 60 mL/min per 1.73 m2 was observed in 15% (n = 17), all of whom had stage 3 CKD (eGFR 30–59 mL/min per 1.73 m2). Those with CKD were older, had higher 25-hydroxyvitamin D levels and lower 1,25-dihydroxyvitamin D levels, and were more likely to be hypertensive than those without CKD. There were no between-group (<60 vs ≥60 mL/min per 1.73 m2) differences in serum calcium, PTH, nephrolithiasis, or meeting surgical criteria other than eGFR. Multiple linear regression indicated that age and diastolic blood pressure were negatively associated with eGFR, whereas serum calcium, kidney stones, and alcohol use were positive predictors. Calculation of eGFR using either the Modification of Diet in Renal Disease or Chronic Kidney Disease Epidemiology Collaboration equation yielded similar results. Conclusions: PHPT patients with stage 3 CKD do not have biochemical or clinical evidence of more severe hyperparathyroidism compared with those without CKD. Traditional risk factors, rather than clinical or biochemical indices of PHPT, are associated with lower eGFR in mild PHPT. PMID:24527717

Epidemiology of Nephrolithiasis in Personnel Returning from Operation Iraqi Freedom

DTIC Science & Technology

2009-01-01

16 A study of twins determined that urine char- cteristics, such as urinary calcium , oxalate , citrate, and uric cid, were highly heritable.15 The...revalence or incidence. An increase in urine calcium as reported in a small group of British naval personnel eployed to the Gulf Region during the summer...Urol. 1993;150:1757-1760. 4. Robertson WG, Peacock M, Heyburn PJ, et al. Epidemiological risk factors in calcium stone disease. Scand J Urol Nephrol

Epidemiologic Insights into Stone Disease as a Systemic Disorder

NASA Astrophysics Data System (ADS)

Curhan, Gary C.

2007-04-01

Examining the epidemiology of stone disease can provide insight into etiology. There is a growing body of evidence that stone disease is not simply a disorder of the kidney. In fact, nephrolithiasis is clearly a systemic disorder. Conditions associated with stone disease include the classic ones such as inflammatory bowel disease and primary hyperparathyroidism. More recent studies have demonstrated strong associations with obesity, gout, diabetes and hypertension. Future studies will help uncover the underlying common pathophysiologic abnormalities.

Pediatric Ureteroscopy.

PubMed

Ost, Michael C; Fox, Patrick J

2018-05-01

In recent years, the incidence of nephrolithiasis in the pediatric population appears to be increasing. 1 This has placed a new emphasis on surgical management of stones in children. In the past, extracorporeal shockwave lithotripsy was the preferred management technique for stones in children. 2 More recently, though, advances in endoscopy have allowed ureteroscopy to be adapted to the pediatric population and this approach has become more frequently utilized not just for lower ureteral calculi but also for proximal ureteral and renal stones.

Triglycerides in the human kidney cortex: relationship with body size.

PubMed

Bobulescu, Ion Alexandru; Lotan, Yair; Zhang, Jianning; Rosenthal, Tara R; Rogers, John T; Adams-Huet, Beverley; Sakhaee, Khashayar; Moe, Orson W

2014-01-01

Obesity is associated with increased risk for kidney disease and uric acid nephrolithiasis, but the pathophysiological mechanisms underpinning these associations are incompletely understood. Animal experiments have suggested that renal lipid accumulation and lipotoxicity may play a role, but whether lipid accumulation occurs in humans with increasing body mass index (BMI) is unknown. The association between obesity and abnormal triglyceride accumulation in non-adipose tissues (steatosis) has been described in the liver, heart, skeletal muscle and pancreas, but not in the human kidney. We used a quantitative biochemical assay to quantify triglyceride in normal kidney cortex samples from 54 patients undergoing nephrectomy for localized renal cell carcinoma. In subsets of the study population we evaluated the localization of lipid droplets by Oil Red O staining and measured 16 common ceramide species by mass spectrometry. There was a positive correlation between kidney cortex trigyceride content and BMI (Spearman R = 0.27, P = 0.04). Lipid droplets detectable by optical microscopy had a sporadic distribution but were generally more prevalent in individuals with higher BMI, with predominant localization in proximal tubule cells and to a lesser extent in glomeruli. Total ceramide content was inversely correlated with triglycerides. We postulate that obesity is associated with abnormal triglyceride accumulation (steatosis) in the human kidney. In turn, steatosis and lipotoxicity may contribute to the pathogenesis of obesity-associated kidney disease and nephrolithiasis.

Ambient temperature as a contributor to kidney stone formation: implications of global warming.

PubMed

Fakheri, Robert J; Goldfarb, David S

2011-06-01

Nephrolithiasis is a common disease across the world that is becoming more prevalent. Although the underlying cause for most stones is not known, a body of literature suggests a role of heat and climate as significant risk factors for lithogenesis. Recently, estimates from computer models predicted up to a 10% increase in the prevalence rate in the next half century secondary to the effects of global warming, with a coinciding 25% increase in health-care expenditures. Our aim here is to critically review the medical literature relating stones to ambient temperature. We have categorized the body of evidence by methodology, consisting of comparisons between geographic regions, comparisons over time, and comparisons between people in specialized environments. Although most studies are confounded by other factors like sunlight exposure and regional variation in diet that share some contribution, it appears that heat does play a role in pathogenesis in certain populations. Notably, the role of heat is much greater in men than in women. We also hypothesize that the role of a significant human migration (from rural areas to warmer, urban locales beginning in the last century and projected to continue) may have a greater impact than global warming on the observed worldwide increasing prevalence rate of nephrolithiasis. At this time the limited data available cannot substantiate this proposed mechanism but further studies to investigate this effect are warranted.

Nephrocalcinosis: re-defined in the era of endourology

PubMed Central

Miller, Nicole L.; Humphreys, Mitchell R.; Coe, Fredric L.; Evan, Andrew P.; Bledsoe, Sharon B.; Handa, Shelly E.; Lingeman, James E.

2013-01-01

Nephrocalcinosis generally refers to the presence of calcium salts within renal tissue, but this term is also used radiologically in diagnostic imaging in disease states that also produce renal stones, so that it is not always clear whether it is tissue calcifications or urinary calculi that give rise to the characteristic appearance of the kidney on x-ray or computed tomography (CT). Recent advances in endoscopic imaging now allow the visual distinction between stones and papillary nephrocalcinosis, and intrarenal endoscopy can also verify the complete removal of urinary stones, so that subsequent radiographic appearance can be confidently attributed to nephrocalcinosis. This report shows exemplary cases of primary hyperparathyroidism, type I distal renal tubular acidosis, medullary sponge kidney, and common calcium oxalate stone formation. In the first three cases—all being conditions commonly associated with nephrocalcinosis—it is shown that the majority of calcifications seen by radiograph may actually be stones. In common calcium oxalate stones formers, it is shown that Randall's plaque can appear as a small calculus on CT scan, even when calyces are known to be completely clear of stones. In the current era with the use of non-contrast CT for the diagnosis of nephrolithiasis, the finding of calcifications in close association with the renal papillae is common. Distinguishing nephrolithiasis from nephrocalcinosis requires direct visual inspection of the papillae and so the diagnosis of nephrocalcinosis is essentially an endoscopic, not radiologic, diagnosis. PMID:21057942

Molecular analysis of the AGXT gene in patients suspected with hyperoxaluria type 1 and three novel mutations from Turkey.

PubMed

Isiyel, Emel; Ezgu, Sevcan A Bakkaloglu; Caliskan, Salim; Akman, Sema; Akil, Ipek; Tabel, Yilmaz; Akinci, Nurver; Ozdogan, Elif Bahat; Ozel, Ahmet; Eroglu, Fehime Kara; Ezgu, Fatih S

2016-12-01

Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1. Disease causing mutations have been found in fifteen patients from thirteen families (18%). Novel mutations have been found (c.458T>A (p.L153X), c.733_734delAA (p.Lys245Valfs*11), c.52 C>T (p.L18F)) in three of 13 families. There were 3-year lag time between initial symptoms and the time of PH1 is suspected; additionally, 5.5-year lag time between initial symptoms and definitive diagnosis. Consanguinity was detected in 77% of the patients with mutation. After genetic diagnosis, one patient received combined kidney and liver transplantation. AGXT gene sequencing is now the choice of diagnosis of PH1 due to its non-invasive nature compared to liver enzyme assay. Early diagnosis and accurate treatment in PH1 is important for better patient outcomes. Copyright © 2016. Published by Elsevier Inc.

Ossification of the cervical ligamentum flavum and osseous brown tumor: late manifestations of primary hyperparathyroidism misdiagnosed in a case of parathyroid carcinoma

PubMed Central

Sampanis, Nikolaos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Vasileiou, Sotirios

2016-01-01

Summary Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations. Herein we aimed at presenting an unique case of a young patient with late manifestations of parathyroid cancer and reviewing the relevant literature. A 45-year-old male patient presented in the Outpatient Clinic with an episode of nephrolithiasis. His personal medical history includes: recurrent episodes of nephrolithiasis, laminectomy in the cervical spine due to ossification of the cervical ligamentum flavum and surgical resection of a giant cell tumor of the brain. Laboratory testing revealed findings of primary hyperparathyroidism (serum calcium 16,0 mmol/l phosphorus 1,46 mg/dl and parathyroid hormone/PTH 8560 pg/ml). Neck ultrasound and technetium-99 m sestamibi scan were performed showing a parathyroid tumor. Due to the persistently high serum calcium and PTH levels, the high alkaline phosphatase levels (440 IU/L) and the late manifestations of HPT, surgical excision of the tumor was performed. The tumor was identified as parathyroid carcinoma. Immediately after surgery serum calcium and phosphorus levels were normalized. The patient is on a regular follow-up program with no signs of recurrence or metastasis one year after the excision. We describe the coexistence of rare late manifestations of HPT, which had not been adequately investigated at their onset in this young patient. Therefore, increased awareness is needed in order to recognize and further investigate signs or symptoms of HPT. PMID:27252748

Ossification of the cervical ligamentum flavum and osseous brown tumor: late manifestations of primary hyperparathyroidism misdiagnosed in a case of parathyroid carcinoma.

PubMed

Sampanis, Nikolaos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Vasileiou, Sotirios

2016-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations. Herein we aimed at presenting an unique case of a young patient with late manifestations of parathyroid cancer and reviewing the relevant literature. A 45-year-old male patient presented in the Outpatient Clinic with an episode of nephrolithiasis. His personal medical history includes: recurrent episodes of nephrolithiasis, laminectomy in the cervical spine due to ossification of the cervical ligamentum flavum and surgical resection of a giant cell tumor of the brain. Laboratory testing revealed findings of primary hyperparathyroidism (serum calcium 16,0 mmol/l phosphorus 1,46 mg/dl and parathyroid hormone/PTH 8560 pg/ml). Neck ultrasound and technetium-99 m sestamibi scan were performed showing a parathyroid tumor. Due to the persistently high serum calcium and PTH levels, the high alkaline phosphatase levels (440 IU/L) and the late manifestations of HPT, surgical excision of the tumor was performed. The tumor was identified as parathyroid carcinoma. Immediately after surgery serum calcium and phosphorus levels were normalized. The patient is on a regular follow-up program with no signs of recurrence or metastasis one year after the excision. We describe the coexistence of rare late manifestations of HPT, which had not been adequately investigated at their onset in this young patient. Therefore, increased awareness is needed in order to recognize and further investigate signs or symptoms of HPT.

Effects of dietary carbohydrates on metabolism of calcium and other minerals in normal subjects and patients with noninsulin-dependent diabetes mellitus.

PubMed

Garg, A; Bonanome, A; Grundy, S M; Unger, R H; Breslau, N A; Pak, C Y

1990-04-01

Transient hypercalciuria has been noted after high carbohydrate meals which is independent of dietary calcium and is probably due to impaired renal calcium reabsorption mediated by an increase in plasma insulin levels. Based on these observations, some investigators believe that long term intake of high carbohydrate diets may increase the risk of nephrolithiasis and possibly osteoporosis. Using a randomized cross-over design, we compared high carbohydrate diets (60% carbohydrate and 25% fat) with high fat diets (50% fat and 35% carbohydrate) for effects on metabolism of calcium and other minerals in eight normal subjects and eight euglycemic patients with noninsulin-dependent diabetes mellitus. All other dietary constituents, such as protein, fiber, fluid, minerals (including Ca, Mg, Na, K, and P), and caffeine intake, were kept constant. Despite higher daylong levels of plasma insulin on the high carbohydrate diets compared to the high fat diet in both normal and noninsulin-dependent diabetic subjects, no changes in daily urinary excretion of calcium or other constituents, associated with renal stone risk, were observed. Furthermore, there was no change in fractional intestinal 47Ca absorption. Although hypercalciuria may ensue transiently after high carbohydrate meals, we conclude that substitution of simple or complex carbohydrates for fats in an isocaloric manner for a longer duration does not result in significant urinary calcium loss, and therefore, high intakes of digestible carbohydrates may not increase the risk of nephrolithiasis or osteoporosis via this mechanism.

Dent Disease in Chinese Children and Findings from Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations.

PubMed

Li, Fucheng; Yue, Zhihui; Xu, Tingting; Chen, Minghui; Zhong, Liangying; Liu, Ting; Jing, Xiangyi; Deng, Jia; Hu, Bin; Liu, Yuling; Wang, Haiyan; Lai, Kar N; Sun, Liangzhong; Liu, Jinsong; Maxwell, Patrick H; Wang, Yiming

2016-07-01

To characterize the phenotypes of Dent disease in Chinese children and their heterozygous mothers and to establish genetic diagnoses. Using a modified protocol, we screened 1288 individuals with proteinuria. A diagnosis of Dent disease was established in 19 boys from 16 families by the presence of loss of function/deleterious mutations in CLCN5 or OCRL1. We also analyzed 16 available patients' mothers and examined their pregnancy records. We detected 14 loss of function/deleterious mutations of CLCN5 in 15 boys and 2 mutations of OCRL1 in 4 boys. Of the patients, 16 of 19 had been wrongly diagnosed with other diseases and 11 of 19 had incorrect or unnecessary treatment. None of the patients, but 6 of 14 mothers, had nephrocalcinosis or nephrolithiasis at diagnosis. Of the patients, 8 of 14 with Dent disease 1 were large for gestational age (>90th percentile); 8 of 15 (53.3%) had rickets. We also present predicted structural changes for 4 mutant proteins. Pediatric Dent disease often is misdiagnosed; genetic testing achieves a correct diagnosis. Nephrocalcinosis or nephrolithiasis may not be sensitive diagnostic criteria. We identified 10 novel mutations in CLCN5 and OCRL1. The possibility that altered CLCN5 function could affect fetal growth and a possible link between a high rate of rickets and low calcium intake are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

Antioxidants inhibition of high plasma androgenic markers in the pathogenesis of ethylene glycol (EG)-induced nephrolithiasis in Wistar rats.

PubMed

Naghii, Mohammad Reza; Mofid, Mahmood; Hedayati, Mehdi; Khalagi, Kazem

2014-04-01

The association between serum gonadal steroids and urolithiasis in males received only limited attention. Calcium oxalate urolithiasis is induced by administration of ethylene glycol in drinking water. It appears that the administration of natural antioxidants has been used to protect against nephrolithiasis in human and experimental animals. The purpose is to study the potential role of antioxidants as inhibitors of high plasma androgenic markers or hyperandrogenicity in the pathogenesis of ethylene glycol-induced nephrolithiasis in Wistar rats. Male Wistar rats were studied in 4-week period. Group 1 (control) was fed a standard commercial diet. Group 2 received the same diet with 0.5 % of ethylene glycol. Group 3 received EG plus the diet and water added with antioxidant nutrients and lime juice as the dietary source of citrate. Group 4 and Group 5 were treated similar to Group 2 and Group 3 with 0.75 % of ethylene glycol. For antioxidant supplementation, the standard diet enriched with 4,000.0 μg vitamin E and 1,500.0 IU vitamin A for each rat per day added to the diet once a week, and provided daily with 5.0 mg vitamin C, 400.0 μg vitamin B6, 20.0 μg selenium, 12.0 mg zinc, and 2.0 mg boron for each rat per day in their drinking water. After treatment period, collection of blood was performed and kidneys were removed and used for histopathological examination. The results based on various assays, measuring size of crystal deposition, and histological examinations showed that high concentration of androgens acts as promoter for the formation of renal calculi due to ethylene glycol consumption and the inhibitory role of antioxidant complex in the formation of renal calculi disease. Data revealed that the size and the mean number of crystal deposits determined in EG 0.75 % treated groups (G4) were significantly higher than the EG-treated groups, added with antioxidant nutrients and lime juice (G5). The mean concentration of androgens in Group 4 increased after EG 0.75 % administration, and decreased after antioxidants supplementation in Group 5. Elevated concentration of androgens (as promoters of the formation of renal calculi) as a result of EG consumption and their decreasing following antioxidant supplementations along with the slight decrease in malondialdehyde level provides a scientific rational for preventive and treatment roles of antioxidant nutrient complex in kidney stone disease.

The effects of ambient temperature, humidity and season of year on urine composition in patients with nephrolithiasis.

PubMed

Eisner, Brian H; Sheth, Sonali; Herrick, Benjamin; Pais, Vernon M; Sawyer, Mark; Miller, Nicole; Hurd, Kimberly J; Humphreys, Mitchell R

2012-12-01

Study Type--Prognosis (cohort series) Level of Evidence 2b. What's known on the subject? and What does the study add? Epidemiologic studies have shown that warmer climates are associated with increased incidence of nephrolithiasis. Many hypothesize that this is due to dehydration and lower urine volumes. The current study of stone formers reports that greater temperatures are associated with significant increases in urine calcium which may shed light on the mechanism underlying the increased stone incidence associated with increased ambient temperature. • To understand the effects of temperature, humidity and season of year on 24-h urine composition in patients with nephrolithiasis. • A retrospective review was performed of patients evaluated at four metabolic stone clinics. • Multivariate linear regression models examined the relationship between mean temperature, average humidity, season of year and 24-h urine composition. • Multivariate models adjusted for known risk factors for stone disease. • Mean temperature and average humidity data were obtained from http://www.weatherunderground.com based on patient-provided addresses. • A total of 599 patients were included in the study, comprising 239 women and 360 men with a mean age of 53.6 years (sd 15.0). • Mean temperature was 16.9 °C (sd 4.8, range -21.1 to 38.3 °C) and average humidity was 58.1% (sd 23.5, range 11-100%). • On multivariate linear regression, increasing temperature was associated with increasing urine calcium (β = 11.3, 95% CI 2.2-20.0), super-saturation of calcium oxalate (β = 0.6, 95% CI 0.2-0.9), super-saturation of calcium phosphate (β = 0.14, 95% CI 0.03-0.2), and decreasing urine sodium (β = -5.2, 95% CI -10.3 to -0.1). • As seasons become warmer (i.e. from winter to autumn to spring to summer), changes were increased urine volume (β = 0.09, 95% CI 0.01-0.2) and decreased super-saturation of calcium phosphate (β = -0.2, 95% CI -0.3 to -0.03). • There were no associations between quintile of humidity and any 24-h urine constituents. • Increasing temperature may increase stone risk by increasing urine excretion of calcium, and the super-saturation of calcium oxalate and calcium phosphate. • These findings were independent of humidity and of season of year. • This appears to be related to a physiological impact of temperature itself, rather than to geographic location. © 2012 BJU INTERNATIONAL.

Castleman Disease Presenting as an Abdominal Mass.

PubMed

Shariati, Farnaz; Verter, Elizabeth; Chang, Wendy; Huang, Li; Joshi, Virendra

2017-01-01

Unicentric Castleman disease is a rare condition of lymphoid hyperplasia, of which only 15% of cases occur in the abdomen. We report a 66-year-old man who presented with complaints of abdominal pain. Computed tomography scans revealed nephrolithiasis and a homogeneous calcified mass between the pancreas and stomach and several para-pancreatic nodes. Direct visualization during exploratory laparotomy revealed a mass on the lesser curvature of the stomach. Pyloromyotomy and mass resection were performed. Biopsy showed reactive lymphoid hyperplasia consistent with the hyaline vascular variant of Castleman disease.

Castleman Disease Presenting as an Abdominal Mass

PubMed Central

Verter, Elizabeth; Chang, Wendy; Huang, Li; Joshi, Virendra

2017-01-01

Unicentric Castleman disease is a rare condition of lymphoid hyperplasia, of which only 15% of cases occur in the abdomen. We report a 66-year-old man who presented with complaints of abdominal pain. Computed tomography scans revealed nephrolithiasis and a homogeneous calcified mass between the pancreas and stomach and several para-pancreatic nodes. Direct visualization during exploratory laparotomy revealed a mass on the lesser curvature of the stomach. Pyloromyotomy and mass resection were performed. Biopsy showed reactive lymphoid hyperplasia consistent with the hyaline vascular variant of Castleman disease. PMID:28584844

Temporal trends of acute nephrolithiasis in Auckland, New Zealand.

PubMed

Du, Jason; Johnston, Richard; Rice, Michael

2009-07-24

An increasing amount of evidence suggests that the occurrence of kidney stone disease has increased over the last 50 years. No data analysis on temporal trends in Auckland, New Zealand has ever been performed. The aim of this study was to investigate the changing pattern by age, ethnicity, and gender on stone incidence over a 10-year period. Demographic data was collected on all patients who presented with renal colic. Population numbers were provided by the New Zealand ministry of statistics using regular census data. The analysis was performed using Pearson's correlation coefficients and a Poisson regression model. From 1997 to 2007, 17,532 new stones were coded as nephrolithiasis with an age range of 1-97. Disease incidence amongst Auckland residents was greater in 2007 than 1997 (0.131% or 131 per 100,000 population vs 0.102% or 102 per 100,000 population. p=0.012). The male to female ratio changed over time with a greater proportion of females presenting in 2007 than 1997 (0.47 vs 0.41, p<0.05). Pacific, Asian, and Maori incidence increased faster compared to European whilst those from the Middle East were the only group to have a stable rate (0.26% or 260/100,000 per year) over the 10-year period. Incidence of kidney stone disease in the Auckland region has increased significantly from 1997 to 2007. Different ethnic groups had different rates of change, but all groups showed an increasing incidence over time, with the exception of those from the Middle East. A greater proportion of patients are female than 10 years ago.

Michelangelo: art, anatomy, and the kidney.

PubMed

Eknoyan, G

2000-03-01

Michelangelo (1475-1564) had a life-long interest in anatomy that began with his participation in public dissections in his early teens, when he joined the court of Lorenzo de' Medici and was exposed to its physician-philosopher members. By the age of 18, he began to perform his own dissections. His early anatomic interests were revived later in life when he aspired to publish a book on anatomy for artists and to collaborate in the illustration of a medical anatomy text that was being prepared by the Paduan anatomist Realdo Colombo (1516-1559). His relationship with Colombo likely began when Colombo diagnosed and treated him for nephrolithiasis in 1549. He seems to have developed gouty arthritis in 1555, making the possibility of uric acid stones a distinct probability. Recurrent urinary stones until the end of his life are well documented in his correspondence, and available documents imply that he may have suffered from nephrolithiasis earlier in life. His terminal illness with symptoms of fluid overload suggests that he may have sustained obstructive nephropathy. That this may account for his interest in kidney function is evident in his poetry and drawings. Most impressive in this regard is the mantle of the Creator in his painting of the Separation of Land and Water in the Sistine Ceiling, which is in the shape of a bisected right kidney. His use of the renal outline in a scene representing the separation of solids (Land) from liquid (Water) suggests that Michelangelo was likely familiar with the anatomy and function of the kidney as it was understood at the time.

Astaxanthin modulates osteopontin and transforming growth factor β1 expression levels in a rat model of nephrolithiasis: a comparison with citrate administration.

PubMed

Alex, Manju; Sauganth Paul, M V; Abhilash, M; Mathews, Varghese V; Anilkumar, T V; Nair, R Harikumaran

2014-09-01

To evaluate the effect of astaxanthin on renal angiotensin-I converting enzyme (ACE) levels, osteopontin (OPN) and transforming growth factor β1 (TGF-β1) expressions and the extent of crystal deposition in experimentally induced calcium oxalate kidney stone disease in a male Wistar rat model. To compare the efficacy of astaxanthin treatment with a currently used treatment strategy (citrate administration) for kidney stones. The expression of OPN was assessed by immunohistochemistry. One step reverse transcriptase polymerase chain reaction followed by densitometry was used to assess renal OPN and TGF-β1 levels. Renal ACE levels were quantified by an enzyme-linked immunosorbent assay method. Crystal deposition in kidney was analysed by scanning electron microscopic (SEM)-energy-dispersive X-ray (EDX). The renal ACE levels and the expression of OPN and TGF-β1 were upregulated in the nephrolithiasis-induced rats. Astaxanthin treatment reduced renal ACE levels and the expression OPN and TGF-β1. SEM-EDX analysis showed that crystal deposition was reduced in the astaxanthin-treated nephrolithiatic group. Astaxanthin treatment was more effective than citrate administration in the regulation of renal ACE levels, OPN and TGF-β1 expressions. Astaxanthin administration reduced renal calcium oxalate crystal deposition possibly by modulating the renal renin-angiotensin system (RAS), which reduced the expression of OPN and TGF-β1 levels. Astaxanthin administration was more effective than citrate treatment in reducing crystal deposition and down-regulating the expression of OPN and TGF-β1. © 2013 The Authors. BJU International © 2013 BJU International.

Physicochemical action of potassium-magnesium citrate in nephrolithiasis

NASA Technical Reports Server (NTRS)

Pak, C. Y.; Koenig, K.; Khan, R.; Haynes, S.; Padalino, P.

1992-01-01

Effect of potassium-magnesium citrate on urinary biochemistry and crystallization of stone-forming salts was compared with that of potassium citrate at same dose of potassium in five normal subjects and five patients with calcium nephrolithiasis. Compared to the placebo phase, urinary pH rose significantly from 6.06 +/- 0.27 to 6.48 +/- 0.36 (mean +/- SD, p less than 0.0167) during treatment with potassium citrate (50 mEq/day for 7 days) and to 6.68 +/- 0.31 during therapy with potassium-magnesium citrate (containing 49 mEq K, 24.5 mEq Mg, and 73.5 mEq citrate per day). Urinary pH was significantly higher during potassium-magnesium citrate than during potassium citrate therapy. Thus, the amount of undissociated uric acid declined from 118 +/- 61 mg/day during the placebo phase to 68 +/- 54 mg/day during potassium citrate treatment and, more prominently, to 41 +/- 46 mg/day during potassium-magnesium citrate therapy. Urinary magnesium rose significantly from 102 +/- 25 to 146 +/- 37 mg/day during potassium-magnesium citrate therapy but not during potassium citrate therapy. Urinary citrate rose more prominently during potassium-magnesium citrate therapy (to 1027 +/- 478 mg/day from 638 +/- 252 mg/day) than during potassium citrate treatment (to 932 +/- 297 mg/day). Consequently, urinary saturation (activity product) of calcium oxalate declined significantly (from 1.49 x 10(-8) to 1.03 x 10(-8) M2) during potassium-magnesium citrate therapy and marginally (to 1.14 x 10(-8) M2) during potassium citrate therapy.(ABSTRACT TRUNCATED AT 250 WORDS).

Nephrolithiasis.

PubMed

Stewart, C

1988-08-01

The management of the patient presenting to the Emergency Department with nephrolithiasis or renal colic should include evaluation of the patient for concurrent diseases, risk factors for stone formation, and possible etiologies for stones. Suspicion of ureterolithiasis is based on a cogent history and physical examination and reinforced by a finding of hematuria. Diagnosis should be based upon a promptly performed intravenous pyelogram, unless the patient is truly allergic to contrast media or has substantial risk of a contrast-induced renal failure. A solitary flat plate of the abdomen adds no useful information and is an unnecessary expense to the patient. Essential laboratory data include a urinalysis, CBC, and electrolyte, BUN, creatinine, and serum calcium levels. A urine culture should be obtained in all patients because urinalysis alone may not be sufficient to exlude a urinary tract infection. Initial treatment of the patient with an uncomplicated renal colic should include hydration, relief of pain, and reassurance. Evaluation by a consultant may be done as an outpatient on a nonemergent basis. If the colic has not resolved after 72 hours, hospitalization generally is recommended. If the patient has vomiting, dehydration, a complete obstruction, or a solitary kidney, hospitalization in indicated and urgent consultation recommended. If the patient has fever or other signs of infection, emergent consultation and immediate hospitalization are essential. Retained obstructing stones are generally managed by urologic consultants. It is in the care of the patient with the retained stone that greatest advances have been made in the past 10 years. Patients should be counseled that the retained stone no longer calls for extended hospitalization and convalescence.

Therapy-resistant nephrolithiasis following renal artery coil embolization

PubMed Central

2013-01-01

Background Transcatheter renal artery embolization is an effective and minimally invasive treatment option for acute renal bleeding. Early post-interventional complications include groin hematoma, incomplete embolization, coil misplacement and coil migration. Late complications are rare and mostly related to coil migration. Case presentation A 22-year-old woman with a history of recurrent stone disease and a lumbal meningomyelocele underwent bilateral open pyelolithotomy for bilateral staghorn calculi. Post-operatively, acute hemorrhage of the left kidney occurred and selective arterial coil embolization of a lower pole interlobular renal artery was performed twice. Four years after this intervention the patient presented with a new 15.4 mm stone in the lower calyx of the left kidney. After two extracorporeal shock wave lithotripsy treatments disintegration of the stone was not detectable. Therefore, flexible ureterorenoscopy was performed and revealed that the stone was adherent to a partially intraluminal metal coil in the lower renal calyx. The intracalyceal part of the coil and the adherent stone were successfully removed using the holmium laser. Conclusion Therapy-resistant nephrolithiasis was caused by a migrated metal coil, which was placed four years earlier for the treatment of acute post-operative renal bleeding. Renal coils in close vicinity to the renal pelvis can migrate into the collecting system and trigger renal stone formation. Extracorporeal shock wave lithotripsy seems to be inefficient for these composite stones. Identification of these rare stones is possible during retrograde intrarenal surgery. It also enables immediate stone disintegration and removal of the stone fragments and the intraluminal coil material. PMID:23758632

Antinephrolithiatic and antioxidative efficacy of Dolichos biflorus seeds in a lithiasic rat model.

PubMed

Saha, Sarmistha; Verma, Ramtej J

2015-01-01

Dolichos biflorus sensu auct non L. (Fabaceae) is widely used for the treatment of kidney stones, leucorrhoea, urinary disorders, and menstrual troubles, and is known for its antioxidant activity. To evaluate the preventive effect of hydro-alcoholic extract of Dolichos biflorus seeds (DBE) in ethylene glycol induced nephrolithiasis. In vitro antioxidative capacity of DBE was estimated in terms of reducing power, superoxide radical, 2,2- diphenyl-1-picrylhydrazyl radical, and nitric oxide scavenging activity. A validated HPLC method was used for standardization using quercetin as a marker. Adult female Wistar rats were administered with DBE (150 and 300 mg/kg body weight/day) along with ethylene glycol (0.75%, v/v) for 28 d. The various biochemical parameters were measured in urine, serum, and kidney followed by histochemistry. Ethylene glycol caused a significant increase in calcium, oxalate, phosphate, and total protein in urine as well as in kidney whereas decrease in calcium, sodium, and magnesium in serum was observed (p < 0.001). Ethylene glycol also caused a significant increase in lipid peroxidation and concurrent decrease in activities of antioxidant enzymes in kidney (p < 0.001). However, the seed extract of D. biflorus caused significant restoration of all these parameters (p < 0.001). Histopathological and histochemical studies also showed the reduced calcifications in kidney of seed extract treated rats. These results indicated that seeds of D. biflorus have significant prophylactic effect in preventing the nephrolithiasis, which might be due to the antioxidant activity of the active compounds of the plant.

Demographic, dietary, and urinary factors and 24-h urinary calcium excretion.

PubMed

Taylor, Eric N; Curhan, Gary C

2009-12-01

Higher urinary calcium is a risk factor for nephrolithiasis. This study delineated associations between demographic, dietary, and urinary factors and 24-h urinary calcium. Cross-sectional studies were conducted of 2201 stone formers (SF) and 1167 nonstone formers (NSF) in the Health Professionals Follow-up Study (men) and Nurses' Health Studies I and II (older and younger women). Median urinary calcium was 182 mg/d in men, 182 mg/d in older women, and 192 mg/d in younger women. Compared with NSF, urinary calcium as a fraction of calcium intake was 33 to 38% higher in SF (P values < or =0.01). In regression analyses, participants were combined because associations with urinary calcium were similar in each cohort and in SF and NSF. After multivariate adjustment, participants in the highest quartile of calcium intake excreted 18 mg/d more urinary calcium than those in the lowest (P trend =0.01). Caffeine and family history of nephrolithiasis were positively associated, whereas urinary potassium, thiazides, gout, and age were inversely associated, with urinary calcium. After multivariate adjustment, participants in the highest quartiles of urinary magnesium, sodium, sulfate, citrate, phosphorus, and volume excreted 71 mg/d, 37 mg/d, 44 mg/d, 61 mg/d, 37 mg/d, and 24 mg/d more urinary calcium, respectively, than participants in the lowest (P values trend < or =0.01). Intestinal calcium absorption and/or negative calcium balance is greater in SF than NSF. Higher calcium intakes at levels typically observed in free-living individuals are associated with only small increases in urinary calcium.

Xanthogranulomatous pyelonephritis presenting as acute pleuritic chest pain: a case report.

PubMed

Chow, Justin; Kabani, Rameez; Lithgow, Kirstie; Sarna, Magdalena A

2017-04-12

Xanthogranulomatous pyelonephritis is a rare and serious manifestation of chronic kidney inflammation that can be life-threatening if not recognized and treated appropriately, often with antibiotics and surgery. Affected patients are most commonly females in their fifth or sixth decade of life with a background of obstructive uropathy, nephrolithiasis, or recurrent urinary tract infections who present with vague nonspecific symptoms. A 43-year-old woman of Russian ethnicity with a history of nephrolithiasis presented to our emergency department with new left-sided pleuritic chest pain amid a 6-week history of constitutional symptoms including fevers, night sweats, and 7 kg of weight loss. Workup for acute coronary syndrome and pulmonary embolism in our emergency department was negative. Given that she was clinically unwell, she was admitted to internal medicine to expedite workup for the cause of her symptoms. A broad differential diagnosis for various infectious, inflammatory/autoimmune, and neoplastic processes was considered. Based on classic radiographic and histopathologic findings, she was ultimately diagnosed with xanthogranulomatous pyelonephritis of her left kidney, which was a direct consequence of chronic inflammation. This inflammation exhibited spread to local tissues and across her left hemidiaphragm, resulting in a unilateral pleural effusion which explained her chest discomfort. She was treated with antibiotics administered intravenously and urgent total nephrectomy with a good functional outcome. Our case illustrates an uncommon but clinically important do-not-miss diagnosis that underlies a common clinical presentation of pleuritic chest pain. The case underscores the importance of maintaining a broad differential diagnosis and organized approach when treating patients with undifferentiated clinical presentations.

The cellular and humoral immunity assay in patients with complicated urolithiasis.

PubMed

Ceban, E; Banov, P; Galescu, A; Tanase, D

2017-01-01

Especially complicated, renal lithiasis contributes to the general inflammatory syndrome development that interferes with nonspecific, humoral and cellular immune system. The surgical treatment of nephrolithiasis is closely related to drug therapy of urinary infection, one of the reasons being the reduction of the immune status. The work is performed by evaluating the immunological status preoperatively in 58 patients with complicated lithiasis. The analysis of the status in these patients demonstrated that complicated urolithiasis results in significant changes in the immune system, these changes being expressed at the cellular and humoral level of immunity.

Urologic Emergencies.

PubMed

Manjunath, Adarsh S; Hofer, Matthias D

2018-03-01

Urologic emergencies can involve the kidneys, ureters, bladder, urethra, penis, scrotum, or testicles. History and physical examination are essential to diagnosis, whereas imaging is increasingly used to confirm diagnoses. Acute urinary retention should be relieved with Foley placement. Penile emergencies include paraphimosis, which can be treated by foreskin reduction, whereas penile fracture and priapism require urologic intervention. Fournier gangrene and testicular torsion are scrotal emergencies requiring emergent surgery. Nephrolithiasis, although painful, is not an emergency unless there is concern for concomitant urinary tract infection, both ureters are obstructed by stones, or there is an obstructing stone in a solitary kidney. Copyright © 2017 Elsevier Inc. All rights reserved.

[Neisser and the clap].

PubMed

Elbert, Niels J; van Gijn, Jan; Gijselhart, Joost P

2013-01-01

In 1879, during his specialization in dermatology, Albert Ludwig Sigesmund Neisser (1855-1916) discovered the bacterial cause of gonorrhoea. The gonococcus - Neisseria gonorrhoea - would, however, not bear his name until 1933. Neisser's early research focused primarily on venereal diseases, syphilis in particular, and on leprosy. Later, as a hygienist, he became a passionate advocate of public clinics for venereal diseases, regulated prostitution, and health education. In 1916, Neisser died of sepsis after lithotripsy for nephrolithiasis. His scientific inheritance includes many publications on a variety of venereal and skin diseases and public health-related topics, and textbooks such as Ikonographia dermatologica and Stereoskopischer Medizinischer Atlas.

The Accuracy and Prognostic Value of Point-of-care Ultrasound for Nephrolithiasis in the Emergency Department: A Systematic Review and Meta-analysis.

PubMed

Wong, Charles; Teitge, Braden; Ross, Marshall; Young, Paul; Robertson, Helen Lee; Lang, Eddy

2018-06-01

Point-of-care ultrasound (POCUS) has been suggested as an initial investigation in the management of renal colic. Our objectives were: 1) to determine the accuracy of POCUS for the diagnosis of nephrolithiasis and 2) to assess its prognostic value in the management of renal colic. The review protocol was registered to the PROSPERO database (CRD42016035331). An electronic database search of MEDLINE, Embase, and PubMed was conducted utilizing subject headings, keywords, and synonyms that address our research question. Bibliographies of included studies and narrative reviews were manually examined. Studies of adult emergency department patients with renal colic symptoms were included. Any degree of hydronephrosis was considered a positive POCUS finding. Accepted criterion standards were computed tomography evidence of renal stone or hydronephrosis, direct stone visualization, or surgical findings. Screening of abstracts, quality assessment with the QUADAS-2 instrument, and data extraction were performed by two reviewers, with discrepancies resolved by consensus with a third reviewer. Test performance was assessed by pooled sensitivity and specificity, calculated likelihood ratios, and a summary receiver operator curve (SROC). The secondary objective of prognostic value was reported as a narrative summary. The electronic search yielded 627 unique titles. After relevance screening, 26 papers underwent full-text review, and nine articles met all inclusion criteria. Of these, five high-quality studies (N = 1,773) were included in the meta-analysis for diagnostic accuracy and the remaining yielded data on prognostic value. The pooled results for sensitivity and specificity were 70.2% (95% confidence interval [CI] = 67.1%-73.2%) and 75.4% (95% CI = 72.5%-78.2%), respectively. The calculated positive and negative likelihood ratios were 2.85 and 0.39. The SROC generated did not show evidence of a threshold effect. Two of the studies in the meta-analysis found that the finding of moderate or greater hydronephrosis yielded a specificity of 94.4% (95% CI = 92.7%-95.8%). Four studies examining prognostic value noted a higher likelihood of a large stone when positive POCUS findings were present. The largest randomized trial showed lower cumulative radiation exposure and no increase in adverse events in those who received POCUS investigation as the initial renal colic investigation. Point-of-care ultrasound has modest diagnostic accuracy for diagnosing nephrolithiasis. The finding of moderate or severe hydronephrosis is highly specific for the presence of any stone, and the presence of any hydronephrosis is suggestive of a larger (>5 mm) stone in those presenting with renal colic. © 2018 by the Society for Academic Emergency Medicine.

Optimization of urinary dipstick pH: Are multiple dipstick pH readings reliably comparable to commercial 24-hour urinary pH?

PubMed

Abbott, Joel E; Miller, Daniel L; Shi, William; Wenzler, David; Elkhoury, Fuad F; Patel, Nishant D; Sur, Roger L

2017-09-01

Accurate measurement of pH is necessary to guide medical management of nephrolithiasis. Urinary dipsticks offer a convenient method to measure pH, but prior studies have only assessed the accuracy of a single, spot dipstick. Given the known diurnal variation in pH, a single dipstick pH is unlikely to reflect the average daily urinary pH. Our goal was to determine whether multiple dipstick pH readings would be reliably comparable to pH from a 24-hour urine analysis. Kidney stone patients undergoing a 24-hour urine collection were enrolled and took images of dipsticks from their first 3 voids concurrently with the 24-hour collection. Images were sent to and read by a study investigator. The individual and mean pH from the dipsticks were compared to the 24-hour urine pH and considered to be accurate if the dipstick readings were within 0.5 of the 24-hour urine pH. The Bland-Altman test of agreement was used to further compare dipstick pH relative to 24-hour urine pH. Fifty-nine percent of patients had mean urinary pH values within 0.5 pH units of their 24-hour urine pH. Bland-Altman analysis showed a mean difference between dipstick pH and 24-hour urine pH of -0.22, with an upper limit of agreement of 1.02 (95% confidence interval [CI], 0.45-1.59) and a lower limit of agreement of -1.47 (95% CI, -2.04 to -0.90). We concluded that urinary dipstick based pH measurement lacks the precision required to guide medical management of nephrolithiasis and physicians should use 24-hour urine analysis to base their metabolic therapy.

Extracellular nucleotides inhibit oxalate transport by human intestinal Caco-2-BBe cells through PKC-δ activation

PubMed Central

Amin, Ruhul; Sharma, Sapna; Ratakonda, Sireesha

2013-01-01

Nephrolithiasis remains a major health problem in Western countries. Seventy to 80% of kidney stones are composed of calcium oxalate, and small changes in urinary oxalate affect risk of kidney stone formation. Intestinal oxalate secretion mediated by the anion exchanger SLC26A6 plays an essential role in preventing hyperoxaluria and calcium oxalate nephrolithiasis, indicating that understanding the mechanisms regulating intestinal oxalate transport is critical for management of hyperoxaluria. Purinergic signaling modulates several intestinal processes through pathways including PKC activation, which we previously found to inhibit Slc26a6 activity in mouse duodenal tissue. We therefore examined whether purinergic stimulation with ATP and UTP affects oxalate transport by human intestinal Caco-2-BBe (C2) cells. We measured [14C]oxalate uptake in the presence of an outward Cl− gradient as an assay of Cl−/oxalate exchange activity, ≥50% of which is mediated by SLC26A6. We found that ATP and UTP significantly inhibited oxalate transport by C2 cells, an effect blocked by the PKC inhibitor Gö-6983. Utilizing pharmacological agonists and antagonists, as well as PKC-δ knockdown studies, we observed that ATP inhibits oxalate transport through the P2Y2 receptor, PLC, and PKC-δ. Biotinylation studies showed that ATP inhibits oxalate transport by lowering SLC26A6 surface expression. These findings are of potential relevance to pathophysiology of inflammatory bowel disease-associated hyperoxaluria, where supraphysiological levels of ATP/UTP are expected and overexpression of the P2Y2 receptor has been reported. We conclude that ATP and UTP inhibit oxalate transport by lowering SLC26A6 surface expression in C2 cells through signaling pathways including the P2Y2 purinergic receptor, PLC, and PKC-δ. PMID:23596171

N-acetylcysteine with apocynin prevents hyperoxaluria-induced mitochondrial protein perturbations in nephrolithiasis.

PubMed

Sharma, Minu; Sud, Amit; Kaur, Tanzeer; Tandon, Chanderdeep; Singla, S K

2016-09-01

Diminished mitochondrial activities were deemed to play an imperative role in surged oxidative damage perceived in hyperoxaluric renal tissue. Proteomics is particularly valuable to delineate the damaging effects of oxidative stress on mitochondrial proteins. The present study was designed to apply large-scale proteomics to describe systematically how mitochondrial proteins/pathways govern the renal damage and calcium oxalate crystal adhesion in hyperoxaluria. Furthermore, the potential beneficial effects of combinatorial therapy with N-acetylcysteine (NAC) and apocynin were studied to establish its credibility in the modulation of hyperoxaluria-induced alterations in mitochondrial proteins. In an experimental setup with male Wistar rats, five groups were designed for 9 d. At the end of the experiment, 24-h urine was collected and rats were euthanized. Urinary samples were analyzed for kidney injury marker and creatinine clearance. Transmission electron microscopy revealed distorted renal mitochondria in hyperoxaluria but combinatorial therapy restored the normal mitochondrial architecture. Mitochondria were isolated from renal tissue of experimental rats, and mitochondrial membrane potential was analyzed. The two-dimensional electrophoresis (2-DE) based comparative proteomic analysis was performed on proteins isolated from renal mitochondria. The results revealed eight differentially expressed mitochondrial proteins in hyperoxaluric rats, which were identified by Matrix-assisted laser desorption/ionization time of flight/time of flight (MALDI-TOF/TOF) analysis. Identified proteins including those involved in important mitochondrial processes, e.g. antioxidant defense, energy metabolism, and electron transport chain. Therapeutic administration of NAC with apocynin significantly expunged hyperoxaluria-induced discrepancy in the renal mitochondrial proteins, bringing them closer to the controls. The results provide insights to further understand the underlying mechanisms in the development of hyperoxaluria-induced nephrolithiasis and the therapeutic relevance of the combinatorial therapy.

Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.

PubMed

Dhir, Gauri; Li, Dong; Hakonarson, Hakon; Levine, Michael A

2017-04-01

To identify a genetic basis for markedly reduced bone density and multiple fractures in an adult patient with hypophosphatemia and hypercalciuria. A 54-year-old Vietnamese man, his unaffected two daughters and wife. We performed biochemical studies and sequenced the SLC34A3 gene using genomic DNA from peripheral blood mononuclear cells. Biochemical evaluation of the proband revealed hypophosphatemia with increased renal phosphate wasting, hypercalciuria, low serum parathyroid hormone (PTH) and an elevated serum 1,25(OH) 2 D level. Mutation analysis of SLC34A3 gene revealed that the patient was a compound heterozygote for two nonsynonymous nucleotide substitutions: a novel c.571G>A (p.G191S) damaging mutation and the previously reported c.200G>A (p.R67H) polymorphism, consistent with the clinical diagnosis of late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH). His wife and older daughter both carried the p.R67H polymorphism, while his younger daughter was compound heterozygous for p.R67H and p.G191S. HHRH is an uncommon autosomal recessive disease that generally manifests in childhood as rickets or nephrolithiasis, but an adult onset phenotype may occur in heterozygous carriers of SLC34A3 mutations. The severe presentation of this proband in adulthood with marked nephrolithiasis, multiple fractures and low bone density emphasizes the importance of measuring the serum phosphorus level in patients with suspected but unexplained osteoporosis and/or recurrent renal stones. The recognition of late-onset HHRH facilitates timely institution of appropriate therapy. Copyright © 2016 Elsevier Inc. All rights reserved.

Community-based study on CKD subjects and the associated risk factors.

PubMed

Chen, Nan; Wang, Weiming; Huang, Yanping; Shen, Pingyan; Pei, Daoling; Yu, Haijin; Shi, Hao; Zhang, Qianying; Xu, Jing; Lv, Yilun; Fan, Qishi

2009-07-01

The study was performed to investigate the prevalence, awareness and the risk factors of chronic kidney disease (CKD) in the community population in Shanghai, China. A total of 2596 residents were randomly recruited from the community population in Shanghai, China. All were screened for albuminuria, haematuria, morning spot urine albumin-to-creatinine ratio and renal function. Serum creatinine, uric acid, cholesterol, triglyceride and haemoglobin were assessed. A simplified MDRD equation was used to estimate the glomerular filtration rate (eGFR). All studied subjects were screened by kidney ultrasound. Haematuria, if present in the morning spot urine dipstick test, was confirmed by microscopy. The associations among the demographic characteristics, health characteristics and indicators of kidney damage were examined. Two thousand five hundred and fifty-four residents (n = 2554), after giving informed consent and with complete data, were entered into this study. Albuminuria and haematuria were detected in 6.3% and 1.2% of all the studied subjects, respectively, whereas decreased kidney function was found in 5.8% of all studied subjects. Approximately 11.8% of subjects had at least one indicator of kidney damage. The rate of awareness of CKD was 8.2%. The logistic regression model showed that age, central obesity, hypertension, diabetes, anaemia, hyperuricaemia and nephrolithiasis each contributed to the development of CKD. This is the first Shanghai community-based epidemiological study data on Chinese CKD patients. The prevalence of CKD in the community population in Shanghai is 11.8%, and the rate of awareness of CKD is 8.2%. All the factors including age, central obesity, hypertension, diabetes, anaemia, hyperuricaemia and nephrolithiasis are positively correlated with the development of CKD in our studied subjects.

Activity, energy intake, obesity, and the risk of incident kidney stones in postmenopausal women: a report from the Women's Health Initiative.

PubMed

Sorensen, Mathew D; Chi, Thomas; Shara, Nawar M; Wang, Hong; Hsi, Ryan S; Orchard, Tonya; Kahn, Arnold J; Jackson, Rebecca D; Miller, Joe; Reiner, Alex P; Stoller, Marshall L

2014-02-01

Obesity is a strong risk factor for nephrolithiasis, but the role of physical activity and caloric intake remains poorly understood. We evaluated this relationship in 84,225 women with no history of stones as part of the Women's Health Initiative Observational Study, a longitudinal, prospective cohort of postmenopausal women enrolled from 1993 to 1998 with 8 years' median follow-up. The independent association of physical activity (metabolic equivalents [METs]/wk), calibrated dietary energy intake, and body mass index (BMI) with incident kidney stone development was evaluated after adjustment for nephrolithiasis risk factors. Activity intensity was evaluated in stratified analyses. Compared with the risk in inactive women, the risk of incident stones decreased by 16% in women with the lowest physical activity level (adjusted hazard ratio [aHR], 0.84; 95% confidence interval [95% CI], 0.74 to 0.97). As activity increased, the risk of incident stones continued to decline until plateauing at a decrease of approximately 31% for activity levels ≥10 METs/wk (aHR, 0.69; 95% CI, 0.60 to 0.79). Intensity of activity was not associated with stone formation. As dietary energy intake increased, the risk of incident stones increased by up to 42% (aHR, 1.42; 95% CI, 1.02 to 1.98). However, intake <1800 kcal/d did not protect against stone formation. Higher BMI category was associated with increased risk of incident stones. In summary, physical activity may reduce the risk of incident kidney stones in postmenopausal women independent of caloric intake and BMI, primarily because of the amount of activity rather than exercise intensity. Higher caloric intake further increases the risk of incident stones.

Contemporary trends in urinary tract stone surgery, a regional perspective: Auckland, New Zealand.

PubMed

Acland, George; Zargar-Shoshtari, Kamran; Rice, Michael

2016-04-01

The aim of the study is to assess the contemporary patterns of utilization of various therapeutic options for the management of nephrolithiasis in our tertiary referral institution in Auckland, New Zealand. A retrospective audit was conducted for all urinary stone procedures between January 2007 and December 2013. Procedure-related information was collected for each year. All elective and emergency procedures were included. Data were collected on the elective waiting lists for each procedure. A total of 5512 stone-related cases were performed during the study period. Six hundred and fifty-three cases were performed in 2007 compared with 945 in 2013. Total number of percutaneous nephrolithotomy (PCNLs) performed, as well as the proportion of PCNL cases, demonstrated a significant decline from 84 (12.9%) in 2007 to 67 (7.1%) in 2013. While the annual numbers of extracorporeal shock wave lithotripsy (ESWLs) have increased, the percentage of ESWLs performed relative to total stone procedures has declined from 33% to 23% over the last 4 years of this audit. There has been a significant rise in the numbers of rigid and flexible ureteroscopies, with these now being the most utilized procedure. The number of patients awaiting elective procedures declined over the duration of this audit, with an associated improvement in meeting annual demand for treatment of nephrolithiasis from 78% in 2007 to 91% in 2013. A proportional decline in PCNL and ESWL utilization with a significant increase in flexible and rigid ureteroscopic procedures has been observed over this time and this pattern has been associated with improved adherence to surgical targets despite an increasing number of cases. © 2015 Royal Australasian College of Surgeons.

Urinary tract abnormalities in Chinese rural children who consumed melamine-contaminated dairy products: a population-based screening and follow-up study

PubMed Central

Liu, Jian-meng; Ren, Aiguo; Yang, Lei; Gao, Jinji; Pei, Lijun; Ye, Rongwei; Qu, Quangang; Zheng, Xiaoying

2010-01-01

Background Kidney damage related to consumption of melamine-contaminated dairy products by young children in China has been described. However, no studies have reported on the population-based prevalence of kidney damage among exposed children or on the condition of affected children after follow-up. Methods We conducted an ultrasound-based screening in September 2008 of 7933 children younger than 36 months of age who lived in a rural area in China where the dairy products most highly contaminated with melamine were sold. We monitored children who had evidence of nephrolithiasis or hydronephrosis at screening using renal ultrasonography after one, three and six months. We also collected information from the mothers of affected children about consumption of melamine-contaminated products between June and August 2008. Results The overall prevalence of urinary tract abnormalities among screened children was 0.61% (95% confidence interval [CI] 0.45%–0.80%). The mean exposure dose of melamine was estimated to be 116 (range 36–220) mg per day. Of the 48 affected children, 43 (89.6%) were asymptomatic, 2 had symptoms and were hospitalized, and 3 had symptoms but treatment had been not sought for them. Of the 46 children for whom six-month follow-up information was available, renal abnormalities persisted in 5 children and resolved in the remaining 41. Interpretation Among children who underwent screening, 0.61% showed ultrasonographic evidence of nephrolithiasis or hydronephrosis. Most of the affected children were asymptomatic. The majority of the affected children recovered from the toxic effects of melamine over time without specific treatment. Renal abnormalities remained in 12% of the affected children. PMID:20176755

Demographic, Dietary, and Urinary Factors and 24-h Urinary Calcium Excretion

PubMed Central

Curhan, Gary C.

2009-01-01

Background and objectives: Higher urinary calcium is a risk factor for nephrolithiasis. This study delineated associations between demographic, dietary, and urinary factors and 24-h urinary calcium. Design, setting, participants, & measurements: Cross-sectional studies were conducted of 2201 stone formers (SF) and 1167 nonstone formers (NSF) in the Health Professionals Follow-up Study (men) and Nurses' Health Studies I and II (older and younger women). Results: Median urinary calcium was 182 mg/d in men, 182 mg/d in older women, and 192 mg/d in younger women. Compared with NSF, urinary calcium as a fraction of calcium intake was 33 to 38% higher in SF (P values ≤0.01). In regression analyses, participants were combined because associations with urinary calcium were similar in each cohort and in SF and NSF. After multivariate adjustment, participants in the highest quartile of calcium intake excreted 18 mg/d more urinary calcium than those in the lowest (P trend =0.01). Caffeine and family history of nephrolithiasis were positively associated, whereas urinary potassium, thiazides, gout, and age were inversely associated, with urinary calcium. After multivariate adjustment, participants in the highest quartiles of urinary magnesium, sodium, sulfate, citrate, phosphorus, and volume excreted 71 mg/d, 37 mg/d, 44 mg/d, 61 mg/d, 37 mg/d, and 24 mg/d more urinary calcium, respectively, than participants in the lowest (P values trend ≤0.01). Conclusions: Intestinal calcium absorption and/or negative calcium balance is greater in SF than NSF. Higher calcium intakes at levels typically observed in free-living individuals are associated with only small increases in urinary calcium. PMID:19820135

Distal Renal Tubular Acidosis and Calcium Nephrolithiasis

NASA Astrophysics Data System (ADS)

Moe, Orson W.; Fuster, Daniel G.; Xie, Xiao-Song

2008-09-01

Calcium stones are commonly encountered in patients with congenital distal renal tubular acidosis, a disease of renal acidification caused by mutations in either the vacuolar H+-ATPase (B1 or a4 subunit), anion exchanger-1, or carbonic anhydrase II. Based on the existing database, we present two hypotheses. First, heterozygotes with mutations in B1 subunit of H+-ATPase are not normal but may harbor biochemical abnormalities such as renal acidification defects, hypercalciuria, and hypocitraturia which can predispose them to kidney stone formation. Second, we propose at least two mechanisms by which mutant B1 subunit can impair H+-ATPase: defective pump assembly and defective pump activity.

Tubular and genetic disorders associated with kidney stones.

PubMed

Mohebbi, Nilufar; Ferraro, Pietro Manuel; Gambaro, Giovanni; Unwin, Robert

2017-02-01

This concise review summarizes our current understanding and the recent developments in genetics and related renal tubular disorders that have been linked with, or have been shown to be causal in, renal stone disease. The aim is to provide a readily accessible quick and easy update for urologists, nephrologists and endocrine or metabolic physicians whose practice involves the diagnosis and management of nephrolithiasis. An important message is to always consider a seemingly rare, and usually genetic, cause of kidney stones, since some of these are emerging as more common than originally thought, especially in adult clinical practice in which a family history of stones is a common finding.

Nutritional Management of Kidney Stones (Nephrolithiasis)

PubMed Central

Segal, Adam M.; Seifter, Julian L.; Dwyer, Johanna T.

2015-01-01

The incidence of kidney stones is common in the United States and treatments for them are very costly. This review article provides information about epidemiology, mechanism, diagnosis, and pathophysiology of kidney stone formation, and methods for the evaluation of stone risks for new and follow-up patients. Adequate evaluation and management can prevent recurrence of stones. Kidney stone prevention should be individualized in both its medical and dietary management, keeping in mind the specific risks involved for each type of stones. Recognition of these risk factors and development of long-term management strategies for dealing with them are the most effective ways to prevent recurrence of kidney stones. PMID:26251832

Acidosis and Urinary Calcium Excretion: Insights from Genetic Disorders

PubMed Central

Cordat, Emmanuelle; Chambrey, Régine; Dimke, Henrik; Eladari, Dominique

2016-01-01

Metabolic acidosis is associated with increased urinary calcium excretion and related sequelae, including nephrocalcinosis and nephrolithiasis. The increased urinary calcium excretion induced by metabolic acidosis predominantly results from increased mobilization of calcium out of bone and inhibition of calcium transport processes within the renal tubule. The mechanisms whereby acid alters the integrity and stability of bone have been examined extensively in the published literature. Here, after briefly reviewing this literature, we consider the effects of acid on calcium transport in the renal tubule and then discuss why not all gene defects that cause renal tubular acidosis are associated with hypercalciuria and nephrocalcinosis. PMID:27468975

Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism

PubMed Central

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism. PMID:26664767

Rare Skeletal Complications in the Setting of Primary Hyperparathyroidism.

PubMed

Sabanis, Nikos; Gavriilaki, Eleni; Paschou, Eleni; Kalaitzoglou, Asterios; Papanikolaou, Dimitrios; Ioannidou, Pinelopi; Vasileiou, Sotirios

2015-01-01

Parathyroid carcinoma represents an extremely rare neoplasm with diverse clinical manifestations which vary from asymptomatic patients to severe complications of hypercalcemia or parathyrotoxicosis while skeletal involvement is rather common. Herein we aimed at presenting a unique case of a young patient with rare aggressive skeletal complications of parathyroid cancer that initially were misdiagnosed. Ossification of the cervical ligamentum flavum and skull tumor illustrates erosive bonny lesions of hyperparathyroidism that in association with previous medical history of recurrent nephrolithiasis and biochemical findings guide the diagnosis. We suggest that increased awareness and holistic approach are needed in order to recognize and further investigate signs and symptoms of hyperparathyroidism.

Primary hyperparathyroidism with classic and severe skeletal involvement.

PubMed

Sandoval, Mark Anthony S; Paz-Pacheco, Elizabeth

2010-08-26

A 63-year-old woman has had multiple repeated fractures. A diagnosis of primary hyperparathyroidism (PHPT) was made after she was found to be hypercalcaemic with an elevated level of intact parathyroid hormone (iPTH). Radiographs revealed classic and severe bone findings in PHPT, features which were common in the past but are thought to be rare at this modern age. She also had nephrolithiasis and osteoporosis. An enlarged parathyroid gland was seen on ultrasound and CT scan, and hyperfunction was demonstrated by scintigraphy. Parathyroidectomy was performed. Histopathologic analysis revealed a parathyroid adenoma. She developed the hungry-bone syndrome 7 days postoperatively, which resolved with with administration of calcium and calcitriol.

Familial microscopic hematuria caused by hypercalciuria and hyperuricosuria.

PubMed

Praga, M; Alegre, R; Hernández, E; Morales, E; Domínguez-Gil, B; Carreño, A; Andrés, A

2000-01-01

We report 12 patients belonging to five different families in whom persistent isolated microhematuria was associated with hypercalciuria and/or hyperuricosuria. Four patients had episodes of gross hematuria, three patients had passed renal stones, and a history of nephrolithiasis was obtained in four of the families (80%). Calcium oxalate and uric acid crystals were commonly observed in the urine sediments. Urinary erythrocytes had a normal appearance on phase-microscopic examination. Reduction of calciuria and uricosuria by thiazide diuretics, allopurinol, forced fluid intake, and dietetic measures led to a persistent normalization of urine sediment with complete disappearance of hematuria. Determination of calcium and uric acid urinary excretions should be included in the study of familial hematuria.

[The beneficial effect of mineral waters of Fiuggi on Pope Bonifacio VIII and Michelangelo: two prominent calculous patients].

PubMed

Androutsos, Georges

2005-09-01

Going back to the dawn of time, we deal with two historical figures, that of Pope Bonifacio VIII, and that of the hierophant of art, Michelangelo Buonarroti. The texts and the codes of the British Museum (Department of Manuscripts), of the Biblioteca Medica Laurenziana (Archivio Buonarroti) of Florence, and the Biblioteca Apostolica of Vatican, convincing detalled evidence that both figures were urological patients. It concerns two clinical cases with especially pertain to the history of lithiasis of urinary tract. Even though, both of them--the first with nephrolithiasis or gravel, and the second with a bladder stone--were historically bound with the well-known cures of Fiuggi in Italy.

Progressive renal papillary calcification and ureteral stone formation in mice deficient for Tamm-Horsfall protein

PubMed Central

Liu, Yan; Mo, Lan; Goldfarb, David S.; Evan, Andrew P.; Liang, Fengxia; Khan, Saeed R.; Lieske, John C.

2010-01-01

Mammalian urine contains a range of macromolecule proteins that play critical roles in renal stone formation, among which Tamm-Horsfall protein (THP) is by far the most abundant. While THP is a potent inhibitor of crystal aggregation in vitro and its ablation in vivo predisposes one of the two existing mouse models to spontaneous intrarenal calcium crystallization, key controversies remain regarding the role of THP in nephrolithiasis. By carrying out a long-range follow-up of more than 250 THP-null mice and their wild-type controls, we demonstrate here that renal calcification is a highly consistent phenotype of the THP-null mice that is age and partially gene dosage dependent, but is gender and genetic background independent. Renal calcification in THP-null mice is progressive, and by 15 mo over 85% of all the THP-null mice develop spontaneous intrarenal crystals. The crystals consist primarily of calcium phosphate in the form of hydroxyapatite, are located more frequently in the interstitial space of the renal papillae than intratubularly, particularly in older animals, and lack accompanying inflammatory cell infiltration. The interstitial deposits of hydroxyapatite observed in THP-null mice bear strong resemblances to the renal crystals found in human kidneys bearing idiopathic calcium oxalate stones. Compared with 24-h urine from the wild-type mice, that of THP-null mice is supersaturated with brushite (calcium phosphate), a stone precursor, and has reduced urinary excretion of citrate, a stone inhibitor. While less frequent than renal calcinosis, renal pelvic and ureteral stones and hydronephrosis occur in the aged THP-null mice. These results provide direct in vivo evidence indicating that normal THP plays an important role in defending the urinary system against calcification and suggest that reduced expression and/or decreased function of THP could contribute to nephrolithiasis. PMID:20591941

Obesity and kidney stone disease: a systematic review.

PubMed

Carbone, Antonio; Al Salhi, Yazan; Tasca, Andrea; Palleschi, Giovanni; Fuschi, Andrea; De Nunzio, Cosimo; Bozzini, Giorgio; Mazzaferro, Sandro; Pastore, Antonio L

2018-05-31

Currently, abdominal obesity has reached an epidemic stage and obesity represents an important challenge for worldwide health authorities. Epidemiologic studies have demonstrated that the stone risk incidence increases with body mass index (BMI), through multiple pathways. Metabolic syndrome and diabetes are associated with an increased renal stones disease incidence. The aim of this systematic review was to investigate the prevalence, morbidity, risk factors involved in the association between obesity and urolithiasis. The search involved finding relevant studies from MEDLINE, EMBASE, Ovid, the Cochrane Central Register of Controlled Trials, CINAHL, Google Scholar, and individual urological journals between January 2001 and May 2017. The inclusion criteria were for studies written in the English language, reporting on the association between obesity and urinary stones. The underlying pathophysiology of stone formation in obese patients is thought to be related to insulin resistance, dietary factors, and a lithogenic urinary profile. Uric acid stones and calcium oxalate stones are observed frequently in these patients. Insulin resistance is thought to alter the renal acid-base metabolism, resulting in a lower urine pH, and increasing the risk of uric acid stone disease. Obesity is also associated with excess nutritional intake of lithogenic substances and with an increase in urinary tract infection incidence. Recent studies highlighted that renal stone disease increases the risk of myocardial infarction, progression of chronic kidney disease, and diabetes. Contemporary, bariatric surgery has been shown to be associated with hyperoxaluria and oxalate nephropathy. Certainly, the many health risks of obesity, including nephrolithiasis, will add more burden on urologists and nephrologists. Obesity related nephrolithiasis seems to necessitate weight loss as primary treatment, but the recognition of the associated complications is necessary to prevent induction of new and equally severe medical problems. The optimal approach to obesity control that minimizes stone risk needs to be determined in order to manage obesity-induced renal stones disease.

Total flavonoids of Desmodium styracifolium attenuates the formation of hydroxy-L-proline-induced calcium oxalate urolithiasis in rats.

PubMed

Zhou, Jianfu; Jin, Jing; Li, Xiong; Zhao, Zhongxiang; Zhang, Lei; Wang, Qian; Li, Jing; Zhang, Qiuhong; Xiang, Songtao

2018-06-01

Desmosium styracifolium (D. styracifolium), which is considered as a Chinese herbal medicine, has been reported to treat the kidney stone diseases. However, the potential phytochemically active components and the underlying mechanisms associated with its efficacy in targeting urolithiasis remain to be elucidated. This study aims to investigate the anti-urolithiatic effect of total flavonoids of D. styracifolium (TFDS) on calcium oxalate (CaOx) renal stones in Sprague-Dawley rats. Animal models of CaOx urolithiasis were established in male Sprague-Dawley rats by adding 5% w/w hydroxy-L-proline (HLP) in regular rat chow. The TFDS orally at 100, 400 mg/kg, respectively, were administered along with HLP for 28 days. At the end of 28 days of treatment, urine and serum samples were collected for crystalluria determination and various biochemical analysis. Kidney tissues were isolated and processed for antioxidant parameters measurement and histopathological examinations. HLP-induced hyperoxaluria alone reliably caused CaOx nephrolithiasis in rats. We showed that TFDS significantly reduced crystalluria and CaOx crystal deposits in the kidney sections as compared to untreated HLP group. Also, TFDS was observed to decrease urinary oxalate excretion, alleviate the pro-acidosis condition, improve the impaired renal functions and renal epithelial cell injury. Moreover, TFDS protected against the oxidative stress changes via reducing MDA content, increasing CAT and GSH-Px activities in renal homogenate, as well as attenuating the expression of MCP-1, OPN and TGF-β proteins. These results indicated that TFDS had beneficial effect on inhibition of CaOx formation in the rat kidney probably through a combination of antioxidant, anti-inflammatory, urine alkalinizing activities, and lowering the concentration of urinary stone-forming constituents. Thus, TFDS might have clinical implications in preventing oxidative renal cell injury and, ultimately, kidney stone formation. The data provide a rationale for the medicinal use of TFDS in nephrolithiasis and identify this agent as a potential source of new antiurolithic drugs.

Cynodon dactylon extract as a preventive and curative agent in experimentally induced nephrolithiasis.

PubMed

Atmani, F; Sadki, C; Aziz, M; Mimouni, M; Hacht, B

2009-04-01

Cynodon dactylon (Poaceae family) decoction was used in the treatment of kidney stones. However, no scientific study was undertaken so far to demonstrate the beneficial effect of the plant. Thus, the aim of the current study is to evaluate the effect of Cynodon aqueous extract as a preventive and curative agent in experimentally induced nephrolithiasis in a rat model. Ethylene glycol (EG) was used in the experiment to induce calcium oxalate (CaOx) deposition into kidneys. In preventive protocol, Cynodon decoction was administered in the same day with EG to evaluate the ability of the extract to prevent crystal deposition. However, in curative protocol, rats were first rendered nephrolithiasic and then the extract was administered to assess the ability of the plant to eliminate the pre-existing crystal deposition. In both protocols, urinary biochemical and other variables were measured during the course of the study. Crystalluria and renal histology were examined as well. The results showed that, in both protocols, all measured variables were similar for both the rat groups. Nevertheless, urinary biochemical analysis was apparently unaffected by the extract except oxalate in preventive protocol, and calcium, sodium, and potassium in curative protocol which were significantly highly excreted in treated rats compared to untreated animals. Crystalluria was characterized mostly by the presence of large quantities of CaOx monohydrate and CaOx dihydrate particles in untreated rats. However, crystalluria was mainly dominated by the presence of CaOx dihydrate particles with reduced size. The most apparent beneficial effect of Cynodon extract was seen in kidney tissues where reduced levels of CaOx deposition have been noticed especially in medullary and papillary sections from treated rats. We concluded that C. dactylon extract has beneficial effect in preventing and eliminating CaOx deposition into kidneys. Such findings provide a scientific explanation for its use in the treatment of kidneys stones.

Extensive characterizations of bacteria isolated from catheterized urine and stone matrices in patients with nephrolithiasis.

PubMed

Tavichakorntrakool, Ratree; Prasongwattana, Vitoon; Sungkeeree, Seksit; Saisud, Phitsamai; Sribenjalux, Pipat; Pimratana, Chaowat; Bovornpadungkitti, Sombat; Sriboonlue, Pote; Thongboonkerd, Visith

2012-11-01

Urinary tract infections are generally known to be associated with nephrolithiasis, particularly struvite stone, in which the most common microbe found is urea-splitting bacterium, i.e. Proteus mirabilis. However, our observation indicated that it might not be the case of stone formers in Thailand. We therefore extensively characterized microorganisms associated with all types of kidney stones. A total of 100 kidney stone formers (59 males and 41 females) admitted for elective percutaneous nephrolithotomy were recruited and microorganisms isolated from catheterized urine and cortex and nidus of their stones were analyzed. From 100 stone formers recruited, 36 cases had a total of 45 bacterial isolates cultivated from their catheterized urine and/or stone matrices. Among these 36 cases, chemical analysis by Fourier-transformed infrared spectroscopy revealed that 8 had the previously classified 'infection-induced stones', whereas the other 28 cases had the previously classified 'metabolic stones'. Calcium oxalate (in either pure or mixed form) was the most common and found in 64 and 75% of the stone formers with and without bacterial isolates, respectively. Escherichia coli was the most common bacterium (approximately one-third of all bacterial isolates) found in urine and stone matrices (both nidus and periphery). Linear regression analysis showed significant correlation (r = 0.860, P < 0.001) between bacterial types in urine and stone matrices. Multidrug resistance was frequently found in these isolated bacteria. Moreover, urea test revealed that only 31% were urea-splitting bacteria, whereas the majority (69%) had negative urea test. Our data indicate that microorganisms are associated with almost all chemical types of kidney stones and urea-splitting bacteria are not the major causative microorganisms found in urine and stone matrices of the stone formers in Thailand. These data may lead to rethinking and a new roadmap for future research regarding the role of microorganisms in kidney stone formation.

The influence of maternal and paternal history on stone composition and clinical course of calcium nephrolithiasis in subjects aged between 15 and 25.

PubMed

Guerra, Angela; Ticinesi, Andrea; Allegri, Franca; Nouvenne, Antonio; Pinelli, Silvana; Folesani, Giuseppina; Lauretani, Fulvio; Maggio, Marcello; Borghi, Loris; Meschi, Tiziana

2016-11-01

Our aim was to compare the influence of maternal history of stones (MHS) and paternal history of stones (PHS) on composition of calculi and disease course in a group of patients with calcium nephrolithiasis (CN) aged between 15 and 25, the age range with the maximal influence of family history on disease expression. One-hundred thirty-five patients (68 F) with CN and one stone-forming parent were retrospectively selected from the database of our outpatient stone clinic, and categorized according to MHS or PHS. Data about stone disease course and composition of passed calculi, determined by chemical analysis or Fourier-transformed infrared spectrophotometry, were collected together with information on blood chemistry and 24-h urinary profile of lithogenic risk. The characteristics of disease course and stone composition were compared using logistic regression tests adjusted for age, sex, and BMI or analysis of covariance where appropriate. Patients with MHS (n = 46) had significantly higher urinary calcium/creatinine ratio and ammonium, a higher prevalence of urological treatments (57 vs 27 %, p < 0.001) and mixed calcium oxalate/calcium phosphate stone composition (69 vs 35 %, p = 0.002) than those with PHS. At multivariate logistic regression models, MHS was independently associated with urological treatments (OR 4.5, 95 %CI 1.9-10.7, p < 0.001) and the formation of calculi with mixed calcium oxalate/calcium phosphate composition (OR 5.8, 95 %CI 1.9-17.9, p = 0.002). The method of stone analysis did not affect this result. In conclusion, in subjects aged 15-25, MHS is associated with mixed calcium stones and with a higher risk for urological procedures, and should be, therefore, considered in the management of urolithiasis.

Kidney Disease in Adenine Phosphoribosyltransferase Deficiency.

PubMed

Runolfsdottir, Hrafnhildur Linnet; Palsson, Runolfur; Agustsdottir, Inger M; Indridason, Olafur S; Edvardsson, Vidar O

2016-03-01

Adenine phosphoribosyltransferase (APRT) deficiency is a purine metabolism disorder causing kidney stones and chronic kidney disease (CKD). The course of nephrolithiasis and CKD has not been well characterized. The objective of this study was to examine long-term kidney outcomes in patients with APRT deficiency. An observational cohort study. All patients enrolled in the APRT Deficiency Registry of the Rare Kidney Stone Consortium. Kidney stones, acute kidney injury (AKI), stage of CKD, end-stage renal disease, estimated glomerular filtration rate (eGFR), and changes in eGFR. Serum creatinine and eGFR calculated using creatinine-based equations. Of 53 patients, 30 (57%) were females and median age at diagnosis was 37.0 (range, 0.6-67.9) years. Median duration of follow-up was 10.3 (range, 0.0-31.5) years. At diagnosis, kidney stones had developed in 29 (55%) patients and 20 (38%) had CKD stages 3 to 5, including 11 (21%) patients with stage 5. At latest follow-up, 33 (62%) patients had experienced kidney stones; 18 (34%), AKI; and 22 (42%), CKD stages 3 to 5. Of 14 (26%) patients with stage 5 CKD, 12 had initiated renal replacement therapy. Kidney stones recurred in 18 of 33 (55%) patients. The median eGFR slope was -0.38 (range, -21.99 to 1.42) mL/min/1.73m(2) per year in patients receiving treatment with an xanthine dehydrogenase inhibitor and -5.74 (range, -75.8 to -0.10) mL/min/1.73m(2) per year in those not treated prior to the development of stage 5 CKD (P=0.001). Use of observational registry data. Progressive CKD and AKI episodes are major features of APRT deficiency, whereas nephrolithiasis is the most common presentation. Advanced CKD without a history of kidney stones is more prevalent than previously reported. Our data suggest that timely therapy may retard CKD progression. Copyright © 2016 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

Rationale and Design of the Registry for Stones of the Kidney and Ureter (ReSKU): A Prospective Observational Registry to Study the Natural History of Urolithiasis Patients.

PubMed

Chang, Helena C; Tzou, David T; Usawachintachit, Manint; Duty, Brian D; Hsi, Ryan S; Harper, Jonathan D; Sorensen, Mathew D; Stoller, Marshall L; Sur, Roger L; Chi, Thomas

2016-12-01

Registry-based clinical research in nephrolithiasis is critical to advancing quality in urinary stone disease management and ultimately reducing stone recurrence. A need exists to develop Health Insurance Portability and Accountability Act (HIPAA)-compliant registries that comprise integrated electronic health record (EHR) data using prospectively defined variables. An EHR-based standardized patient database-the Registry for Stones of the Kidney and Ureter (ReSKU™)-was developed, and herein we describe our implementation outcomes. Interviews with academic and community endourologists in the United States, Canada, China, and Japan identified demographic, intraoperative, and perioperative variables to populate our registry. Variables were incorporated into a HIPAA-compliant Research Electronic Data Capture database linked to text prompts and registration data within the Epic EHR platform. Specific data collection instruments supporting New patient, Surgery, Postoperative, and Follow-up clinical encounters were created within Epic to facilitate automated data extraction into ReSKU. The number of variables within each instrument includes the following: New patient-60, Surgery-80, Postoperative-64, and Follow-up-64. With manual data entry, the mean times to complete each of the clinic-based instruments were (minutes) as follows: New patient-12.06 ± 2.30, Postoperative-7.18 ± 1.02, and Follow-up-8.10 ± 0.58. These times were significantly reduced with the use of ReSKU structured clinic note templates to the following: New patient-4.09 ± 1.73, Postoperative-1.41 ± 0.41, and Follow-up-0.79 ± 0.38. With automated data extraction from Epic, manual entry is obviated. ReSKU is a longitudinal prospective nephrolithiasis registry that integrates EHR data, lowering the barriers to performing high quality clinical research and quality outcome assessments in urinary stone disease.

Removal of kidney stones by extracorporeal shock wave lithotripsy is associated with delayed progression of chronic kidney disease.

PubMed

Yoo, Dong Eun; Han, Seung Hyeok; Oh, Hyung Jung; Kim, Seung Jun; Shin, Dong Ho; Lee, Mi Jung; Yoo, Tae-Hyun; Kang, Shin-Wook; Choi, Kyu Hun

2012-07-01

This study aimed to elucidate whether stone removal by extracorporeal shock wave lithotripsy (ESWL) is associated with delayed chronic kidney disease (CKD) progression. We conducted a retrospective analysis of 131 nephrolithiasis patients with stage 3 and 4 CKD. We collected baseline clinical and laboratory data, kidney stone characteristics, and history of receiving ESWL. We classified study patients into two groups according to whether they underwent ESWL or not (Non-ESWL group vs. ESWL group). We initially compared annual estimated glomerular filtration rate (eGFR) changes of Non-ESWL group with those of ESWL group before undergoing ESWL. In the next step, we sought to compare annual eGFR changes in the same patients before and after ESWL. Finally, we compared annual eGFR changes between success and failure groups among patients undergoing ESWL. The mean age of the patients was 62 years and 72.5% were male. The mean observation period was 3.2 years. Non-ESWL group and ESWL group before undergoing ESWL showed similar annual eGFR changes (-1.75±6.5 vs. -1.63±7.2 mL/min/1.73 m²/year, p=0.425). However, eGFR declined slower after undergoing ESWL than before ESWL (annual eGFR changes, -0.29±6.1 vs. -1.63±7.2 mL/min/1.73 m²/year, p<0.05). In addition, among patients in ESWL group, eGFR declined faster in the failure group than in the success group (annual eGFR change, -1.01±4.7 vs. -0.05±5.2 mL/min/1.73 m²/year, p<0.05). Our results suggest that stone removal by ESWL is associated with delayed deterioration of renal function in CKD patients with nephrolithiasis.

Rationale and Design of the Registry for Stones of the Kidney and Ureter (ReSKU): A Prospective Observational Registry to Study the Natural History of Urolithiasis Patients

PubMed Central

Chang, Helena C.; Tzou, David T.; Usawachintachit, Manint; Duty, Brian D.; Hsi, Ryan S.; Harper, Jonathan D.; Sorensen, Mathew D.; Stoller, Marshall L.; Sur, Roger L.

2016-01-01

Abstract Objectives: Registry-based clinical research in nephrolithiasis is critical to advancing quality in urinary stone disease management and ultimately reducing stone recurrence. A need exists to develop Health Insurance Portability and Accountability Act (HIPAA)-compliant registries that comprise integrated electronic health record (EHR) data using prospectively defined variables. An EHR-based standardized patient database—the Registry for Stones of the Kidney and Ureter (ReSKU™)—was developed, and herein we describe our implementation outcomes. Materials and Methods: Interviews with academic and community endourologists in the United States, Canada, China, and Japan identified demographic, intraoperative, and perioperative variables to populate our registry. Variables were incorporated into a HIPAA-compliant Research Electronic Data Capture database linked to text prompts and registration data within the Epic EHR platform. Specific data collection instruments supporting New patient, Surgery, Postoperative, and Follow-up clinical encounters were created within Epic to facilitate automated data extraction into ReSKU. Results: The number of variables within each instrument includes the following: New patient—60, Surgery—80, Postoperative—64, and Follow-up—64. With manual data entry, the mean times to complete each of the clinic-based instruments were (minutes) as follows: New patient—12.06 ± 2.30, Postoperative—7.18 ± 1.02, and Follow-up—8.10 ± 0.58. These times were significantly reduced with the use of ReSKU structured clinic note templates to the following: New patient—4.09 ± 1.73, Postoperative—1.41 ± 0.41, and Follow-up—0.79 ± 0.38. With automated data extraction from Epic, manual entry is obviated. Conclusions: ReSKU is a longitudinal prospective nephrolithiasis registry that integrates EHR data, lowering the barriers to performing high quality clinical research and quality outcome assessments in urinary stone disease. PMID:27758162

Chronic dietary oxalate nephropathy after intensive dietary weight loss regimen

PubMed Central

Khneizer, Gebran; Al-Taee, Ahmad; Mallick, Meher S; Bastani, Bahar

2017-01-01

Background: Hyperoxaluria has been associated with nephrolithiasis as well as acute and chronic kidney disease. We present a case of end stage renal failure caused by excessive dietary oxalate intake in a dietary weight loss regimen. Case Presentation: A 51-year-old Caucasian male with the past medical history of type 2 diabetes mellitus, gout, hypertension and morbid obesity was referred to the primary care clinic after being found pale and easily fatigued. The patient had lost 36 kg over a 7-month period by implementing exercise and intense dietary measures that included 6 meals of spinach, kale, berries, and nuts. Physical examination revealed a blood pressure of 188/93 mm Hg with sunken eyes and dry mucus membranes. Laboratory workup was notable for blood urea nitrogen of 122 mg/dL, creatinine of 12 mg/dL, and estimated glomerular filtration rate (eGFR) of 4.4 mL/min/1.73m2. Patient denied any history of renal disease or renal stones, or taking herbal products, non-steroidal anti-inflammatory drugs, antifreeze (ethylene glycol), or any type of "diet pills." Family history was unremarkable for any renal diseases. After failing intravenous fluid resuscitation, patient was started on maintenance hemodialysis. Abdominal imaging was consistent with chronic renal parenchymal disease with no evidence of nephrolithiasis. Renal biopsy revealed numerous polarized oxalate crystal deposition and diabetic nephropathy class IIA. At this point the patient was instructed to adopt a low oxalate diet. A 24-hour urine collection was remarkable for pH 4.7, citrate <50 mg, and oxalate 46 mg. Importantly, serum oxalate level was undetectable. Repeat renal biopsy 5 months later while patient was still on maintenance hemodialysis revealed persistence of extensive oxalate crystal deposition. Patient has been referred for evaluation for renal transplantation. Conclusions: Clinicians need to maintain a high index of suspicion for dietary hyperoxaluria as a potential etiology for acute or chronic kidney failure, particularly in patients pursuing intensive dietary weight loss intervention PMID:28975090

Probabilistic Modeling of the Renal Stone Formation Module

NASA Technical Reports Server (NTRS)

Best, Lauren M.; Myers, Jerry G.; Goodenow, Debra A.; McRae, Michael P.; Jackson, Travis C.

2013-01-01

The Integrated Medical Model (IMM) is a probabilistic tool, used in mission planning decision making and medical systems risk assessments. The IMM project maintains a database of over 80 medical conditions that could occur during a spaceflight, documenting an incidence rate and end case scenarios for each. In some cases, where observational data are insufficient to adequately define the inflight medical risk, the IMM utilizes external probabilistic modules to model and estimate the event likelihoods. One such medical event of interest is an unpassed renal stone. Due to a high salt diet and high concentrations of calcium in the blood (due to bone depletion caused by unloading in the microgravity environment) astronauts are at a considerable elevated risk for developing renal calculi (nephrolithiasis) while in space. Lack of observed incidences of nephrolithiasis has led HRP to initiate the development of the Renal Stone Formation Module (RSFM) to create a probabilistic simulator capable of estimating the likelihood of symptomatic renal stone presentation in astronauts on exploration missions. The model consists of two major parts. The first is the probabilistic component, which utilizes probability distributions to assess the range of urine electrolyte parameters and a multivariate regression to transform estimated crystal density and size distributions to the likelihood of the presentation of nephrolithiasis symptoms. The second is a deterministic physical and chemical model of renal stone growth in the kidney developed by Kassemi et al. The probabilistic component of the renal stone model couples the input probability distributions describing the urine chemistry, astronaut physiology, and system parameters with the physical and chemical outputs and inputs to the deterministic stone growth model. These two parts of the model are necessary to capture the uncertainty in the likelihood estimate. The model will be driven by Monte Carlo simulations, continuously randomly sampling the probability distributions of the electrolyte concentrations and system parameters that are inputs into the deterministic model. The total urine chemistry concentrations are used to determine the urine chemistry activity using the Joint Expert Speciation System (JESS), a biochemistry model. Information used from JESS is then fed into the deterministic growth model. Outputs from JESS and the deterministic model are passed back to the probabilistic model where a multivariate regression is used to assess the likelihood of a stone forming and the likelihood of a stone requiring clinical intervention. The parameters used to determine to quantify these risks include: relative supersaturation (RS) of calcium oxalate, citrate/calcium ratio, crystal number density, total urine volume, pH, magnesium excretion, maximum stone width, and ureteral location. Methods and Validation: The RSFM is designed to perform a Monte Carlo simulation to generate probability distributions of clinically significant renal stones, as well as provide an associated uncertainty in the estimate. Initially, early versions will be used to test integration of the components and assess component validation and verification (V&V), with later versions used to address questions regarding design reference mission scenarios. Once integrated with the deterministic component, the credibility assessment of the integrated model will follow NASA STD 7009 requirements.

Duplex gall bladder: bystander or culprit.

PubMed

Kumar, Jogender; Yadav, Arushi

2017-08-30

Gall bladder (GB) duplication is a rare anatomical malformation, which can be detected by preoperative imaging study. We present a case of duplex gall bladder in a 14-year-old boy who presented with abdominal pain. On ultrasound, he had right nephrolithiasis and duplex gall bladder. Duplex gall bladder was confirmed on MR cholangiopancreatography. There was a dilemma for surgical management of duplex gall bladder; however, he became asymptomatic after conservative treatment. Prophylactic surgery is not recommended for asymptomatic incidentally detected duplex gall bladder. Radiologists and paediatric surgeons should be sensitised about the exact anatomy of this entity. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Rhabdomyolysis and acute myoglobinuric renal failure in a patient with bilateral pheochromocytoma following open pyelolithotomy.

PubMed

Anaforoglu, Inan; Ertorer, M Eda; Haydardedeoglu, Filiz E; Colakoglu, Tamer; Tokmak, Naime; Demirag, Nilgun G

2008-04-01

Rhabdomyolysis is an unusual manifestation of pheochromocytoma. Early diagnosis and prompt management are crucial, as it may have life-threatening consequences. This is the case of a 19-year-old man with bilateral pheochromocytoma complicated with rhabdomyolysis and acute myoglobinuric renal failure after surgery for nephrolithiasis. A massive catecholamine release during the procedure manifested itself as a hypertensive crisis, producing severe vasoconstriction and thereby provoking ischemia of the patient's muscle tissue. This insult resulted in rhabdomyolysis and acute myoglobinuric renal failure. After making sure that all necessary medical precautions were performed, including blood pressure stabilization with alpha receptor blockade and adequate fluid replacement, the patient successfully underwent a bilateral cortex-sparing medullar adrenalectomy. The operation specimen was reported as pheochromocytoma.

Lowering urinary oxalate excretion to decrease calcium oxalate stone disease

PubMed Central

Knight, John; Assimos, Dean G.

2016-01-01

Dietary modifications should be considered as a first line approach in the treatment of idiopathic calcium oxalate nephrolithiasis. The amounts of oxalate and calcium consumed in the diet are significant factors in the development of the disease due to their impact on urinary oxalate excretion. There are a number of strategies that can be employed to reduce oxalate excretion. The consumption of oxalate-rich foods should be avoided and calcium intake adjusted to 1000–1200 mg/day. To encourage compliance it should be emphasized to patients that they be vigilant with this diet as a deviation in any meal or snack could potentially result in significant stone growth. The evidence underlying these two modifications is outlined and other strategies to reduce urinary oxalate excretion are reviewed. PMID:26614109

Medullary Sponge Kidney and Urinary Calculi Aeromedical Concerns

NASA Technical Reports Server (NTRS)

Jones, Jeffrey A.; Cherian, Sebastian F.; Barr, Yael R.; Stocco, Amber

2008-01-01

Medullary Sponge Kidney (MSK) is a benign disorder associated with renal stones in 60% of patients. Patients frequently have episodic painless hematuria but are otherwise asymptomatic unless renal calculi or infections complicate the disease. Nephrolithiasis is a relative, but frequently enforced, contraindication to space or other high performance flight. Two case reports of asymptomatic NASA flight crew with MSK and three cases of military aviators diagnosed with MSK are reviewed, all cases resulted in waiver and return to flight status after treatment and a vigorous follow up and prophylaxis protocol. MSK in aviation and space flight necessitates a highly case-by-case dependent evaluation and treatment process to rule out other potential confounding factors that might also contribute to stone formation and in order to re-qualify the aviator for flight duties.

Necrotizing suppurative nephritis in a Japanese black feedlot steer due to Proteus mirabilis infection.

PubMed

Abe, Tadatsugu; Iizuka, Ayako; Kojima, Hirokazu; Kimura, Kumiko; Shibahara, Tomoyuki; Haritani, Makoto

2017-04-05

A Japanese black feedlot steer suddenly died after exhibiting astasia and cramping of the extremities. Necropsy of the animal revealed that the right kidney was enlarged and pale with severe nephrolithiasis. The urinary bladder displayed mucosal hemorrhage. Upon bacteriological investigation, Proteus mirabilis was isolated from the liver, spleen, right kidney, lungs and urine. Histopathological examination revealed necrotizing suppurative nephritis with the presence of numerous gram-negative bacilli and fibrinous suppurative cystitis with no bacilli. Immunohistochemical analysis revealed that the bacteria and cytoplasm of the macrophages stained positively with P. mirabilis antiserum. Electron microscopy revealed the presence of numerous bacteria in the renal tubules. To our knowledge, this is the first report describing the histopathological aspects of nephritis caused by P. mirabilis in cattle.

Fad diets and their effect on urinary stone formation.

PubMed

Nouvenne, Antonio; Ticinesi, Andrea; Morelli, Ilaria; Guida, Loredana; Borghi, Loris; Meschi, Tiziana

2014-09-01

The influence of unhealthy dietary habits on urinary stone formation has been widely recognized in literature. Dietary advice is indeed the cornerstone prescription for prevention of nephrolithiasis as well. However, only a small amount of medical literature has addressed the influence of popular or fad diets, often self-prescribed for the management of obesity and overweight or for cultural beliefs, on the risk of kidney stones. Thereby in this paper we analyze the current knowledge on the effects of some popular diets on overall lithogenic risk. High-protein diets, like Dukan diet, raise some concerns, since animal proteins are able to increase urinary calcium and to decrease urinary citrate excretion, thus leading to a high overall lithogenic risk. Low-carbohydrate diets, like Atkins diet or zone diet, may have a protective role against kidney stone formation, but there are also evidences stating that this dietary approach may rise calciuria and decrease citraturia, since it is generally associated to a relatively high intake of animal proteins. Vegan diet can be harmful for urinary stone disease, especially for the risk of hyperuricemia and micronutrient deficiencies, even if only few studies have addressed this specific matter. On the other side, the benefits of a lacto-ovo-vegetarian diet on kidney stone prevention have been largely emphasized, provided that the intake of calcium and oxalate is balanced. Traditional Mediterranean diet should exert a protective effect on nephrolithiasis as well, even if specific studies have not been carried out yet. High phytate and antioxidant content of this diet have however demonstrated to be beneficial in preventing the formation of new or recurrent calculi. Anyway, at the current state of knowledge, the most effective dietary approach to prevent kidney stone disease is a mild animal protein restriction, a balanced intake of carbohydrates and fats and a high intake of fruit and vegetables. Other fundamental aspects, which are often neglected in fad diets, are a normal intake of milk and dairy products and salt restriction. All these nutritional aspects should be greatly taken into account when patients who are willing to undergo fad or commercial diets ask for dietary advice.

Fad diets and their effect on urinary stone formation

PubMed Central

Nouvenne, Antonio; Ticinesi, Andrea; Morelli, Ilaria; Guida, Loredana; Meschi, Tiziana

2014-01-01

The influence of unhealthy dietary habits on urinary stone formation has been widely recognized in literature. Dietary advice is indeed the cornerstone prescription for prevention of nephrolithiasis as well. However, only a small amount of medical literature has addressed the influence of popular or fad diets, often self-prescribed for the management of obesity and overweight or for cultural beliefs, on the risk of kidney stones. Thereby in this paper we analyze the current knowledge on the effects of some popular diets on overall lithogenic risk. High-protein diets, like Dukan diet, raise some concerns, since animal proteins are able to increase urinary calcium and to decrease urinary citrate excretion, thus leading to a high overall lithogenic risk. Low-carbohydrate diets, like Atkins diet or zone diet, may have a protective role against kidney stone formation, but there are also evidences stating that this dietary approach may rise calciuria and decrease citraturia, since it is generally associated to a relatively high intake of animal proteins. Vegan diet can be harmful for urinary stone disease, especially for the risk of hyperuricemia and micronutrient deficiencies, even if only few studies have addressed this specific matter. On the other side, the benefits of a lacto-ovo-vegetarian diet on kidney stone prevention have been largely emphasized, provided that the intake of calcium and oxalate is balanced. Traditional Mediterranean diet should exert a protective effect on nephrolithiasis as well, even if specific studies have not been carried out yet. High phytate and antioxidant content of this diet have however demonstrated to be beneficial in preventing the formation of new or recurrent calculi. Anyway, at the current state of knowledge, the most effective dietary approach to prevent kidney stone disease is a mild animal protein restriction, a balanced intake of carbohydrates and fats and a high intake of fruit and vegetables. Other fundamental aspects, which are often neglected in fad diets, are a normal intake of milk and dairy products and salt restriction. All these nutritional aspects should be greatly taken into account when patients who are willing to undergo fad or commercial diets ask for dietary advice. PMID:26816783

Calcium and phosphorus regulatory hormones and risk of incident symptomatic kidney stones.

PubMed

Taylor, Eric N; Hoofnagle, Andrew N; Curhan, Gary C

2015-04-07

Calcium and phosphorus regulatory hormones may contribute to the pathogenesis of calcium nephrolithiasis. However, there has been no prospective study to date of plasma hormone levels and risk of kidney stones. This study aimed to examine independent associations between plasma levels of 1,25-dihydroxyvitamin D (1,25[OH]2D), 25-hydroxyvitamin D, 24,25-dihydroxyvitamin D, fibroblast growth factor 23 (FGF23), parathyroid hormone, calcium, phosphate, and creatinine and the subsequent risk of incident kidney stones. This study was a prospective, nested case-control study of men in the Health Professionals Follow-Up Study who were free of diagnosed nephrolithiasis at blood draw. During 12 years of follow-up, 356 men developed an incident symptomatic kidney stone. Using risk set sampling, controls were selected in a 2:1 ratio (n=712 controls) and matched for age, race, and year, month, and time of day of blood collection. Baseline plasma levels of 25-hydroxyvitamin D, 24,25-dihydroxyvitamin D, parathyroid hormone, calcium, phosphate, and creatinine were similar in cases and controls. Mean 1,25(OH)2D and median FGF23 levels were higher in cases than controls but differences were small and statistically nonsignificant (45.7 versus 44.2 pg/ml, P=0.07 for 1,25[OH]2D; 47.6 versus 45.1 pg/ml, P=0.08 for FGF23). However, after adjusting for body mass index, diet, plasma factors, and other covariates, the odds ratios of incident symptomatic kidney stones in the highest compared with lowest quartiles were 1.73 (95% confidence interval, 1.11 to 2.71; P for trend 0.01) for 1,25(OH)2D and 1.45 (95% confidence interval, 0.96 to 2.19; P for trend 0.03) for FGF23. There were no significant associations between other plasma factors and kidney stone risk. Higher plasma 1,25(OH)2D, even in ranges considered normal, is independently associated with higher risk of symptomatic kidney stones. Although of borderline statistical significance, these findings also suggest that higher FGF23 may be associated with risk. Copyright © 2015 by the American Society of Nephrology.

Signification of distal urinary acidification defects in hypocitraturic patients

PubMed Central

Forni Ogna, Valentina; Blanchard, Anne; Vargas-Poussou, Rosa; Ogna, Adam; Baron, Stéphanie; Bertocchio, Jean-Philippe; Prot-Bertoye, Caroline; Nevoux, Jérôme; Dubourg, Julie; Maruani, Gérard; Mendes, Margarida; Garcia-Castaño, Alejandro; Treard, Cyrielle; Lepottier, Nelly; Houillier, Pascal; Courbebaisse, Marie

2017-01-01

Background and objectives Hypocitraturia has been associated with metabolic acidosis and mineral disorders. The aim of this study was to investigate the occurrence of urinary acidification defects underlying hypocitraturia. Materials and methods This retrospective observational study included 67 patients (32 men), aged 40.7±15.1 years with hypocitraturia (<1.67 mmol/24-h) and nephrolithiasis, nephrocalcinosis, and/or bone demineralization, referred to our center from 2000 to 2015. We aimed to assess renal distal acidification capacity, prevalence and mechanisms of urinary acidification defects. Patients with low baseline plasma HCO3- (<22 mmol/L) were studied by bicarbonate loading or furosemide/fludrocortisone tests. Patients with normal baseline plasma HCO3- had an ammonium-chloride challenge test. A normal response was a decrease in urinary pH <5.3 and an increase in urinary NH4+ ≥33 μmol/min and defined idiopathic hypocitraturia. Results Eleven patients (16.4%) had low HCO3- and overt distal acidification defect. Three had a mutation in the gene encoding AE1, 4 had Gougerot-Sjögren syndrome and no cause was found in the remaining 4 cases. Fifty-six patients (83.6%) had normal HCO3-; of those, 33 (58.9%) had idiopathic hypocitraturia. Among the 23 (41%) remaining patients, 12 were unable to increase urinary NH4+ excretion (among them, 8 were able to decrease urinary pH and 4 were not) whereas 11 were able to increase urinary NH4+ excretion but unable to decrease urinary pH. These 11 patients had higher fasting urinary calcium, reflecting bone resorption, than the other 12 patients: median 0.41 [0.24–0.47] vs. 0.22 [0.08–0.37] mmol/mmol creatinine (P = 0.04). Conclusions Patients with hypocitraturia and normal plasma HCO3- frequently show a latent acidification defect that can be further dissected into one of several subtypes based on urinary pH and NH4+ response to the acid load. Those patients with impaired urine acidification capacity but preserved NH4+ excretion exhibit particularly high calciuria and should be identified to optimize nephrolithiasis prevention. PMID:28542241

Prospective Study of Surgery for Primary Hyperparathyroidism (HPT) in Multiple Endocrine Neoplasia-type 1 (MEN1), and Zollinger-Ellison syndrome (ZES): Long-term Outcome of a More Virulent form of HPT

PubMed Central

Norton, JA; Venzon, DJ; Berna, MJ; Alexander, HR; Frake, DL; Libutti, SK; Marx, SJ; Gibril, F; Jensen, RT

2009-01-01

Background HPT in MEN1 patients with ZES is caused by parathyroid hyperplasia. Surgery for parathyroid hyperplasia is tricky and difficult. Long-term outcome in ZES/MEN1 /HPT is not well known. Methods 84 consecutive patients (49 F/35 M) with ZES/MEN1 /HPT underwent intial parathyroidectomy (PTX) and were followed at 1−3 yr intervals. Results Age at PTX was 36±2 yrs. Mean follow-up was 17±1 yrs. Prior to PTX, mean Ca=2.8 mmol/L (nl<2.5), PTHi=243 pg/ml (nl <65), and gastrin=6950 pg/ml (nl <100). 61% had nephrolithiasis. Each patient had parathyroid hyperplasia. 58% of patients had four parathyroid glands identified. 9/84 (11%) had 4 glands removed with immediate autograft, 40/84 (47%) 3−3.5 glands, while 35/84 (42%) <3 glands.removed. Persistent/recurrent HPT occurred in 42%/48% of patients with <3 glands, 12%/44% with 3−3.5 glands, and 0%/55% with 4 glands removed. Hypoparathyroidism occurred in 3%, 10% and 22%, respectively. The disease-free interval following surgery was significantly longer if >3 glands were removed. After surgery to correct the HPT, each biochemical parameter of ZES was improved and 20% of patients no longer had laboratory evidence of ZES. Conclusions HPT /MEN1/ZES is a severe form of parathyroid hyperplasia with a high rate of nephrolithiasis, persistent and recurrent HPT. Surgery to correct the hypercalcemia significantly ameliorates the ZES. Removal of less than 3 and ½ glands has an unacceptably high incidence of persistent HPT (42%), while 4 gland resection and transplant has an high rate of permanent hypoparathyroidism (22%). >3gland resection has a longer disease-free interval. 3 and ½ gland parathyroidectomy is the surgical procedure of choice for patients with HPT/MEN1/ ZES. Careful long-term follow-up is mandatory as a significant proportion will develop recurrent HPT. PMID:18376196

Effect of fruit extract on renal stone formation and kidney injury in rats.

PubMed

Partovi, Nasrin; Ebadzadeh, Mohammad Reza; Fatemi, S Jamilaldin; Khaksari, Mohammad

2018-05-01

This study investigated the effect of oral administration of Cactus fruit extracts on calcium oxalate deposition, malondialdehyde (MDA) and superoxide dismutase (SOD) activity in rat model. About 42 rats were used for the study. The animals were divided into seven groups. Control group maintained on regular rat food and drinking water throughout the study period, whereas in other groups nephrolithiasis was induced by ethylene glycol. Rats in kidney stone group were sacrificed after 28 days and all remaining groups after 58 days. Treatment groups were treated with 1 and 100 mg/kg of aqueous and ethanolic extracts of Cactus fruit for 30 days. After treatment, SOD activity was increased and MDA was decreased significantly. CaOx depositions were decreased significantly, especially in ethanolic extract of Cactus fruit in high dose (100 mg/kg).

Recent finding and new technologies in nephrolitiasis: a review of the recent literature

PubMed Central

2013-01-01

This review summarizes recent literature on advances regarding renal and ureteral calculi, with particular focus in areas of recent advances in the overall field of urolithiasis. Clinical management in everyday practice requires a complete understanding of the issues regarding metabolic evaluation and subgrouping of stone-forming patients, diagnostic procedures, effective treatment regime in acute stone colic, medical expulsive therapy, and active stone removal. In this review we focus on new perspectives in managing nephrolitihiasis and discuss recentadvances, including medical expulsive therapy, new technologies, and refinements of classical therapy such as shock wave lithotripsy, give a fundamental modification of nephrolithiasis management. Overall, this field appears to be the most promising, capable of new developments in ureterorenoscopy and percutaneous approaches. Further improvements are expected from robotic-assisted procedures, such as flexible robotics in ureterorenoscopy. PMID:23413950

Ultrasound Use in Urinary Stones: Adapting Old Technology for a Modern-Day Disease.

PubMed

Tzou, David T; Usawachintachit, Manint; Taguchi, Kazumi; Chi, Thomas

2017-04-01

Ultrasound has become a mainstay tool in urologists' armamentarium for the diagnosis and management of nephrolithiasis. From starting as a rudimentary form of imaging, it has come to play a more prominent role over time, paralleling evolution in ultrasound technology. Throughout the medical community there is a growing emphasis on reducing the amount of ionizing radiation delivered to patients during routine imaging. As such there has been a resurgence of interest in ultrasound given its lack of associated radiation exposure and proven effectiveness as a diagnostic and therapeutic imaging modality. Herein, we provide a review of the history of ultrasound, how the use of ultrasound is expanding in both diagnosis and treatment of urinary stone disease, and finally how promising applications of ultrasound are shaping the future of kidney stone management.

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

PubMed Central

Jaureguiberry, Graciana; De la Dure-Molla, Muriel; Parry, David; Quentric, Mickael; Himmerkus, Nina; Koike, Toshiyasu; Poulter, James; Klootwijk, Enriko; Robinette, Steven L.; Howie, Alexander J.; Patel, Vaksha; Figueres, Marie-Lucile; Stanescu, Horia C.; Issler, Naomi; Nicholson, Jeremy K.; Bockenhauer, Detlef; Laing, Christopher; Walsh, Stephen B.; McCredie, David A.; Povey, Sue; Asselin, Audrey; Picard, Arnaud; Coulomb, Aurore; Medlar, Alan J.; Bailleul-Forestier, Isabelle; Verloes, Alain; Le Caignec, Cedric; Roussey, Gwenaelle; Guiol, Julien; Isidor, Bertrand; Logan, Clare; Shore, Roger; Johnson, Colin; Inglehearn, Christopher; Al-Bahlani, Suhaila; Schmittbuhl, Matthieu; Clauss, François; Huckert, Mathilde; Laugel, Virginie; Ginglinger, Emmanuelle; Pajarola, Sandra; Spartà, Giuseppina; Bartholdi, Deborah; Rauch, Anita; Addor, Marie-Claude; Yamaguti, Paulo M.; Safatle, Heloisa P.; Acevedo, Ana Carolina; Martelli-Júnior, Hercílio; dos Santos Netos, Pedro E.; Coletta, Ricardo D.; Gruessel, Sandra; Sandmann, Carolin; Ruehmann, Denise; Langman, Craig B.; Scheinman, Steven J.; Ozdemir-Ozenen, Didem; Hart, Thomas C.; Hart, P. Suzanne; Neugebauer, Ute; Schlatter, Eberhard; Houillier, Pascal; Gahl, William A.; Vikkula, Miikka; Bloch-Zupan, Agnès; Bleich, Markus; Kitagawa, Hiroshi; Unwin, Robert J.; Mighell, Alan; Berdal, Ariane; Kleta, Robert

2013-01-01

Background/Aims Calcium homeostasis requires regulated cellular and interstitial systems interacting to modulate the activity and movement of this ion. Disruption of these systems in the kidney results in nephrocalcinosis and nephrolithiasis, important medical problems whose pathogenesis is incompletely understood. Methods We investigated 25 patients from 16 families with unexplained nephrocalcinosis and characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption). To identify the causative gene, we performed genome-wide linkage analysis, exome capture, next-generation sequencing, and Sanger sequencing. Results All patients had bi-allelic FAM20A mutations segregating with the disease; 20 different mutations were identified. Conclusions This au-tosomal recessive disorder, also known as enamel renal syndrome, of FAM20A causes nephrocalcinosis and amelogenesis imperfecta. We speculate that all individuals with biallelic FAM20A mutations will eventually show nephrocalcinosis. PMID:23434854

Ultrasound Use in Urinary Stones: Adapting Old Technology for a Modern-Day Disease

PubMed Central

Tzou, David T.; Usawachintachit, Manint; Taguchi, Kazumi

2017-01-01

Abstract Ultrasound has become a mainstay tool in urologists' armamentarium for the diagnosis and management of nephrolithiasis. From starting as a rudimentary form of imaging, it has come to play a more prominent role over time, paralleling evolution in ultrasound technology. Throughout the medical community there is a growing emphasis on reducing the amount of ionizing radiation delivered to patients during routine imaging. As such there has been a resurgence of interest in ultrasound given its lack of associated radiation exposure and proven effectiveness as a diagnostic and therapeutic imaging modality. Herein, we provide a review of the history of ultrasound, how the use of ultrasound is expanding in both diagnosis and treatment of urinary stone disease, and finally how promising applications of ultrasound are shaping the future of kidney stone management. PMID:27733052

Necrotizing crescentic glomerulonephritis related to sarcoidosis: a case report.

PubMed

Maroz, Natallia; Field, Halle

2015-12-14

Renal injury due to sarcoidosis develops in less than a quarter of patients with this systemic disease. In most cases, granulomatous tissue alters the production of vitamin D, which leads to hypercalciuria, nephrocalcinosis, and nephrolithiasis. Granulomatous interstitial nephritis is another well-recognized pathological process associated with sarcoidosis. However, a glomerular pathology is very rarely noted, and only a few cases are reported to have cellular crescentic glomerulonephritis. We describe the case of a 26-year-old African American woman with systemic sarcoidosis, with a unique constellation of renal lesions, including noncaseating epithelioid granulomatous necrotizing interstitial nephritis, cellular crescent formation, and necrotizing vasculitis. Immunosuppressive therapy was helpful for alleviating her nephrotic syndrome and maintaining the stability of her renal function over a 30-month period. Glomerular involvement of sarcoidosis needs to be considered in the differential diagnosis in cases of rapidly progressive glomerular nephritis.

Pathological Calcification and Ossification in Relation to Leriche and Policard's Theory.

PubMed

Jones, W; Roberts, R E

1933-05-01

(1) Pathology of calcification and ossification.-The Leriche-Policard theories. Hyperaemia of bone causes decalcification. Reduced blood supply causes sclerosis. Diminution of vascularity of fibrous tissue causes calcification. Excess of calcium, adequate blood supply and fibroblasts give rise to bone anywhere. Subperiosteal ossification. "Myositis ossificans."(2) Radiological significance of density of bone shadows.-Decalcification of disuse, of infections, of neoplasms. Traumatic and infective scquestra. Evidence that a fragment of bone is avascular.(3) Hyperaemic decalcification of bone.-Delayed and non-union of fractures. Kummel's disease. Spontaneous hyperaemic dislocation of the atlas. Hyperaemic decalcification and nephrolithiasis.(4) Anaemic sclerosis of bone.-Syphilitic bone disease. Malignant bone disease. Fragility of sclerosed bone-Paget's, Kienboch's, Kohler's and Panner's, Albers-Schönberg's diseases.(5) Pathological calcification.-Calcification of supraspinatus tendon. Calcification of tumours-angioma, haematoma, and thrombosed vessels, lipoma, cysts, etc. Calcification of semilunar cartilages and intervertebral discs.(6) Pathological ossification.-Ossification of tendons. Ossification of semilunar cartilages.

The Roles and Mechanisms of Intestinal Oxalate Transport in Oxalate Homeostasis

PubMed Central

Hatch, Marguerite; Freel, Robert W.

2008-01-01

The mammalian intestine has an important role in the dynamics of oxalate exchange and thereby is significant in the etiology of calcium oxalate nephrolithiasis. Here we review some of the phenomenological observations that have led to the conclusion that anion exchangers (antiporters) are important mediators of secondarily active, net oxalate transport along the intestine (both absorptive and secretory). Understanding the mechanisms of transepithelial oxalate transport has been radically advanced in recent years by the identification of the SLC26 family of anion transporters which has facilitated the identification of specific proteins mediating individual apical or basolateral oxalate transport pathways. Moreover, identification of specific exchangers has underscored their relative importance to oxalate homeostasis as revealed by using knockout mouse models and facilitated studies of oxalate transport regulation in heterologous expression systems. Finally, the significance of oxalate degrading bacteria to oxalate homeostasis is considered from basic and applied perspectives. PMID:18359395

Acute renal failure after ingestion of guaifenesin and dextromethorphan.

PubMed

Small, Evan; Sandefur, Benjamin J

2014-07-01

Guaifenesin is a common nonprescription medication that has been implicated in drug-induced nephrolithiasis. Dextromethorphan, a nonprescription antitussive found in some guaifenesin-containing preparations, is increasingly recognized as a substance of abuse by many youth and young adults. Renally excreted medications known to have poor solubility in urine have the potential to precipitate when ingested in large quantity, leading to acute obstruction of the ureters and renal failure. We describe the case of a 22-year-old male who developed severe bilateral flank pain, hematuria, and oliguria after an isolated recreational ingestion of guaifenesin and dextromethorphan. The patient was found to have bilateral ureteral obstruction and acute renal failure, suspected to be secondary to precipitation of medication metabolites in the urine. This case highlights the potential for acute renal failure secondary to guaifenesin and dextromethorphan abuse. Copyright © 2014 Elsevier Inc. All rights reserved.

Degradation of oxalate in rats implanted with immobilized oxalate oxidase.

PubMed

Raghavan, K G; Tarachand, U

1986-01-20

Accumulation of oxalate leads to hyperoxaluria and calcium oxalate nephrolithiasis in man. Since oxalate is a metabolic end product in mammals, the feasibility of its enzymic degradation has been tested in vivo in rats by administering exogenous oxalate oxidase. Oxalate oxidase, isolated from banana fruit peels, in its native form was found to be non-active at the physiological pH of the recipient animal. However, its functional viability in the recipient animal was ensured by its prior binding with ethylenemaleic anhydride, thus shifting its pH activity curve towards the alkaline range. Rats implanted with dialysis membrane capsules containing such immobilized oxalate oxidase in their peritoneal cavities effectively metabolized intraperitoneally injected [14C]oxalate as well as its precursor [14C]glyoxalate. The implantation of capsules containing coentrapped multienzyme preparations of oxalate oxidase, catalase and peroxidase led to a further degradation of administered [14C]oxalate in rats.

Squamous cell carcinoma of the renal pelvis associated with kidney stones: a case report.

PubMed

Paonessa, J; Beck, H; Cook, S

2011-12-01

A 70-year-old female with a long-standing history of kidney calculi presented with vague abdominal pain. Work-up included a CT and MRI of the kidneys. A mass was demonstrated in the superior pole of the left kidney. The mass was biopsied percutaneously under CT guidance. Pathology revealed a poorly differentiated carcinoma, but was inconclusive for a definitive cell type. The patient subsequently underwent a nephrectomy that revealed squamous cell carcinoma of the renal collecting system. She had an uneventful postoperative recovery. Chronic renal calculi pose a risk for the development of squamous metaplasia that may lead to squamous cell carcinoma. Although this malignancy is rare in the upper urinary tracts, patients with long-standing nephrolithiasis should be monitored. This diagnosis should be included in one's differential when evaluating a renal mass that is associated with chronic inflammatory conditions.

The exposome for kidney stones.

PubMed

Goldfarb, David S

2016-02-01

The exposome is the assembly and measure of all the exposures of an individual in a lifetime. An individual's exposures begin before birth and include insults from environmental and occupational sources. The associated field is called exposomics, which relies on the application of internal and external exposure assessment methods. Exposomics has not yet been thoroughly applied to the study of kidney stones although much is known about how diet and fluid intake affect nephrolithiasis. Some other novel exposures that may contribute to kidney stones are discussed including use of antibiotics, urbanization and migration to urban heat islands, and occupation. People whose school and jobs limit their access to fluids and adequate bathroom facilities may have higher prevalence of stones. Examples include athletes, teachers, heathcare workers, and cab drivers. Occupational kidney stones have received scant attention and may represent a neglected, and preventable, type of stone. An exposomic-oriented history would include a careful delineation of occupation and activities.

Imaging of hemorrhagic fever with renal syndrome: a potential bioterrorism agent of military significance.

PubMed

Bui-Mansfield, Liem T; Cressler, Dana K

2011-11-01

Hemorrhagic fever with renal syndrome (HFRS) is a potentially fatal infectious disease with worldwide distribution. Its etiologic agents are viruses of the genus Hantavirus of the virus family Bunyaviridae. Hypothetical ease of production and distribution of these agents, with their propensity to incapacitate victims and overwhelm health care resources, lend themselves as significant potential biological agents of terrorism. HFRS has protean clinical manifestations, which may mimic upper respiratory tract infection, nephrolithiasis, and Hantavirus pulmonary syndrome and may delay proper treatment. Sequelae of HFRS, such as hemorrhage, acute renal failure, retroperitoneal edema, pancreatitis, pulmonary edema, and neurologic symptoms, can be detected by different imaging modalities. Medical providers caring for HFRS patients must be aware of its radiologic features, which may help to confirm its clinical diagnosis. In this article, the authors review the epidemiology, pathophysiology, clinical presentation, diagnosis, treatment, and complications of HFRS.

Kidney Disease in Oman: a View of the Current and Future Landscapes.

PubMed

Al Alawi, Intisar Hamed; Al Salmi, Issa; Al Mawali, Adhra; Sayer, John A

2017-07-01

Oman is located in the southeast of Arabian Peninsula with a relatively young population of about 3 831 553 people. The Ministry of Health, which is the healthcare provider, is facing a challenge with the increased levels of noncommunicable diseases including chronic kidney disease. A growing number of patients progress to end-stage kidney disease (ESKD), demanding renal replacement therapy. In 2014, there were 1339 of ESKD patients receiving dialysis and almost 1400 patients received kidney transplants. The estimated annual incidence of ESKD is 120 patients per million population. Diabetes mellitus and hypertensive nephropathy are the commonly identified causes of ESKD. Many patients with glomerulonephritis, systemic lupus erythematosus, nephrolithiasis, and inherited kidney disease present with advanced chronic kidney disease. This article reviews the current status of kidney disease in Oman and addresses the present and future needs, through a systematic-review of all related papers.

Incidence of and risk factors for nephrolithiasis in patients with gout and the general population, a cohort study.

PubMed

Landgren, A J; Jacobsson, L T H; Lindström, U; Sandström, T Z S; Drivelegka, P; Björkman, L; Fjellstedt, E; Dehlin, M

2017-07-24

Nephrolithiasis (NL) is known to be associated with gout, although there are few comparative studies on risk and risk factors for NL in gout compared to population cohorts. In this cohort study we investigated: (1) overall incidence of NL in gout (cases) and general population controls; (2) risk and risk factors (common comorbidities and medications) for first-time NL in cases and controls separately. Cases (n = 29,968) and age-matched and sex-matched controls (n = 138,678) were identified from the regional healthcare database in western Sweden (VEGA). The analyzed risk factors (comorbidities and current medication use) for first-time NL, and socioeconomic factors were retrieved from VEGA and other national Swedish registers. For cases, follow up began on 1 January 2006 or on the first diagnosis of gout if this occurred later, and for controls on their index patient's first diagnosis of gout. Follow up ended on death, emigration or 31 December 2012. Incidence rates (IR) per 1000 person-years and hazard ratios (HR) were calculated. The incidence calculations were performed for cases (regardless of prior NL) and their controls. HRs with first occurrence of NL as outcome were calculated only in those without previous NL. In cases there were 678 NL events (IR: 6.16 events per 1000 person-years (95% CI: 5.70-6.64) and in controls 2125 NL events (IR 3.85 events per 1000 person-years (95% CI: 3.69-4.02), resulting in an age-sex-adjusted incidence rate ratio of 1.60 (95% CI:1.47-1.74). Point estimates for predictive factors were similar in cases and controls, except for a significant interaction for losartan which increased the risk of NL only in controls (HR = 1.49 (95% CI: 1.03-2.14). Loop diuretics significantly decreased the risk of NL by 30-34% in both cases and controls. Further significant predictors of NL in gout cases were male sex, diabetes and obesity and in controls male sex and kidney disease. The risk (age and sex adjusted) of NL was increased by 60% in cases compared to controls. None of the commonly used medications increased the risk of NL in gout patients.

Seasonal variations in urinary risk factors among patients with nephrolithiasis

NASA Technical Reports Server (NTRS)

Hill, K.; Poindexter, J.; Pak, C. Y.

1991-01-01

Twenty-four hour urine specimens from 5,677 stone-forming patients throughout the United States were analyzed for seasonal variations in urinary risk factors for nephrolithiasis. Determinations were performed for urine volume, pH, calcium, oxalate, phosphorus, sodium, magnesium, citrate, sulfate, uric acid, and the relative supersaturation (RS) of calcium oxalate, brushite, monosodium urate, and uric acid. Criteria for significant seasonal variation included a significant difference in monthly means of risk factors, seasonal grouping of the data by the Student-Newman-Keuls multiple range test, consistent year-to-year trends and a physiologically significant range. Minimum urine volume of 1.54 +/- 0.70 SD L/day occurred in October while a maximum urine volume of 1.76 +/- 0.78 SD L/day was observed during February. Minimum urine pH of 5.94 +/- 0.64 SD was observed during July and August while a maximum pH of 6.18 +/- 0.61 SD was observed during February. Daily urinary excretion of sodium was lowest during August, 158 +/- 74 SD mEq/day and highest during February 177 +/- 70 SD mEq/day. The RS of brushite and uric acid were found to display significant pH-dependent seasonal variation with a maximum RS of uric acid 2.26 +/- 1.98 SD in June and a low of 1.48 +/- 1.30 SD in February. Maximum RS of brushite 2.75 +/- 2.58 was observed during February. Minimum RS of brushite 1.93 +/- 1.70 SD was observed in June. Phosphorus excretion displayed seasonal variation about a spring-fall axis with a maximum value 1042 +/- 373 SD mg/day in April and a minimum value of 895 +/- 289 SD mg/day. Urine volume, sodium, and pH were significantly lower during the summer (June, July, August) than in the winter (December, January, February). The RS of uric acid was higher, but that of brushite and monosodium urate was lower in the summer than in the winter. The seasonal changes observed in urine volume, pH, sodium, and the RS of brushite and uric acid are consistent with summertime sweating and increased physical activity. Seasonal variations in phosphorus excretion are probably dietary in origin. The summertime was characterized by an increased propensity for the crystallization of uric acid but not of calcium oxalate or calcium phosphate.

Dietary cation-anion difference may explain why ammonium urate nephrolithiasis occurs more frequently in common bottlenose dolphins () under human care than in free-ranging common bottlenose dolphins.

PubMed

Ardente, A J; Wells, R S; Smith, C R; Walsh, M T; Jensen, E D; Schmitt, T L; Colee, J; Vagt, B J; Hill, R C

2017-03-01

Ammonium urate nephrolithiasis frequently develops in common bottlenose dolphins () managed under human care but is rare in free-ranging common bottlenose dolphins. In other species, the dietary cation-anion difference (DCAD) can affect ammonium urate urolith formation by increasing proton excretion as ammonium ions. Therefore, differences in diet between the 2 dolphin populations could affect urolith formation, but the DCAD of most species consumed by free-ranging and managed dolphins is unknown. To compare the nutrient composition of diets consumed by free-ranging and managed bottlenose dolphins, samples ( = 5) of the 8 species of fish commonly consumed by free-ranging bottlenose dolphins in Sarasota Bay, FL, and the 7 species of fish and squid commonly fed to managed bottlenose dolphins were analyzed for nutrient content. Metabolizable energy was calculated using Atwater factors; the DCAD was calculated using 4 equations commonly used in people and animals that use different absorption coefficients. The nutrient composition of individual species was used to predict the DCAD of 2 model diets typically fed to managed common bottlenose dolphins and a model diet typically consumed by common bottlenose dolphins in Sarasota Bay. To mimic differences in postmortem handling of fish for the 2 populations of bottlenose dolphins, "free-ranging" samples were immediately frozen at -80°C and minimally thawed before analysis, whereas "managed" samples were frozen for 6 to 9 mo at -18°C and completely thawed. "Free-ranging" species contained more Ca and P and less Na and Cl than "managed" fish and squid species. As a consequence, the DCAD of both model managed dolphin diets obtained using 3 of the 4 equations was much more negative than the DCAD of the model free-ranging bottlenose dolphin diet ( < 0.05). The results imply that managed bottlenose dolphins must excrete more protons in urine than free-ranging bottlenose dolphins, which will promote nephrolith formation. The nutrient composition of the free-ranging bottlenose dolphin diet, determined for the first time here, can be used as a guide for feeding managed bottlenose dolphins, but research in vivo is warranted to determine whether adding more cations to the diet will prevent urolith formation in managed dolphins.

Dietary treatment of urinary risk factors for renal stone formation. A review of CLU Working Group.

PubMed

Prezioso, Domenico; Strazzullo, Pasquale; Lotti, Tullio; Bianchi, Giampaolo; Borghi, Loris; Caione, Paolo; Carini, Marco; Caudarella, Renata; Ferraro, Manuel; Gambaro, Giovanni; Gelosa, Marco; Guttilla, Andrea; Illiano, Ester; Martino, Marangella; Meschi, Tiziana; Messa, Piergiorgio; Miano, Roberto; Napodano, Giorgio; Nouvenne, Antonio; Rendina, Domenico; Rocco, Francesco; Rosa, Marco; Sanseverino, Roberto; Salerno, Annamaria; Spatafora, Sebastiano; Tasca, Andrea; Ticinesi, Andrea; Travaglini, Fabrizio; Trinchieri, Alberto; Vespasiani, Giuseppe; Zattoni, Filiberto

2015-07-07

Diet interventions may reduce the risk of urinary stone formation and its recurrence, but there is no conclusive consensus in the literature regarding the effectiveness of dietary interventions and recommendations about specific diets for patients with urinary calculi. The aim of this study was to review the studies reporting the effects of different dietary interventions for the modification of urinary risk factors in patients with urinary stone disease. A systematic search of the Pubmed database literature up to July 1, 2014 for studies on dietary treatment of urinary risk factors for urinary stone formation was conducted according to a methodology developed a priori. Studies were screened by titles and abstracts for eligibility. Data were extracted using a standardized form and the quality of evidence was assessed. Evidence from the selected studies were used to form evidence-based guideline statements. In the absence of sufficient evidence, additional statements were developed as expert opinions. General measures: Each patient with nephrolithiasis should undertake appropriate evaluation according to the knowledge of the calculus composition. Regardless of the underlying cause of the stone disease, a mainstay of conservative management is the forced increase in fluid intake to achieve a daily urine output of 2 liters. HYPERCALCIURIA: Dietary calcium restriction is not recommended for stone formers with nephrolithiasis. Diets with a calcium content ≥ 1 g/day (and low protein-low sodium) could be protective against the risk of stone formation in hypercalciuric stone forming adults. Moderate dietary salt restriction is useful in limiting urinary calcium excretion and thus may be helpful for primary and secondary prevention of nephrolithiasis. A low-normal protein intake decrease calciuria and could be useful in stone prevention and preservation of bone mass. Omega-3 fatty acids and bran of different origin decreases calciuria, but their impact on the urinary stone risk profile is uncertain. Sports beverage do not affect the urinary stone risk profile. HYPEROXALURIA: A diet low in oxalate and/or a calcium intake normal to high (800-1200 mg/day for adults) reduce the urinary excretion of oxalate, conversely a diet rich in oxalates and/or a diet low in calcium increase urinary oxalate. A restriction in protein intake may reduce the urinary excretion of oxalate although a vegetarian diet may lead to an increase in urinary oxalate. Adding bran to a diet low in oxalate cancels its effect of reducing urinary oxalate. Conversely, the addition of supplements of fruit and vegetables to a mixed diet does not involve an increased excretion of oxalate in the urine. The intake of pyridoxine reduces the excretion of oxalate. HYPERURICOSURIA: In patients with renal calcium stones the decrease of the urinary excretion of uric acid after restriction of dietary protein and purine is suggested although not clearly demonstrated. HYPOCITRATURIA: The administration of alkaline-citrates salts is recommended for the medical treatment of renal stone-formers with hypocitraturia, although compliance to this treatment is limited by gastrointestinal side effects and costs. Increased intake of fruit and vegetables (excluding those with high oxalate content) increases citrate excretion and involves a significant protection against the risk of stone formation. Citrus (lemons, oranges, grapefruit, and lime) and non citrus fruits (melon) are natural sources of dietary citrate, and several studies have shown the potential of these fruits and/or their juices in raising urine citrate levels. There are enought basis to advice an adequate fluid intake also in children. Moderate dietary salt restriction and implementation of potassium intake are useful in limiting urinary calcium excretion whereas dietary calcium restriction is not recommended for children with nephrolithiasis. It seems reasonable to advice a balanced consumption of fruit and vegetables and a low consumption of chocolate and cola according to general nutritional guidelines, although no studies have assessed in pediatric stone formers the effect of fruit and vegetables supplementation on urinary citrate and the effects of chocolate and cola restriction on urinary oxalate in pediatric stone formers. Despite the low level of scientific evidence, a low-protein (< 20 g/day) low-salt (< 2 g/day) diet with high hydration (> 3 liters/day) is strongly advised in children with cystinuria. ELDERLY: In older patients dietary counseling for renal stone prevention has to consider some particular aspects of aging. A restriction of sodium intake in association with a higher intake of potassium, magnesium and citrate is advisable in order to reduce urinary risk factors for stone formation but also to prevent the loss of bone mass and the incidence of hypertension, although more hemodynamic sensitivity to sodium intake and decreased renal function of the elderly have to be considered. A diet rich in calcium (1200 mg/day) is useful to maintain skeletal wellness and to prevent kidney stones although an higher supplementation could involve an increase of risk for both the formation of kidney stones and cardiovascular diseases. A lower content of animal protein in association to an higher intake of plant products decrease the acid load and the excretion of uric acid has no particular contraindications in the elderly patients, although overall nutritional status has to be preserved.

Obesity and Kidney Disease: Hidden Consequences of the Epidemic.

PubMed

Kovesdy, Csaba P; Furth, Susan; Zoccali, Carmine

2017-03-01

Obesity has become a worldwide epidemic, and its prevalence has been projected to grow by 40% in the next decade. This increasing prevalence has implications for the risk of diabetes mellitus, cardiovascular disease, and also for chronic kidney disease. A high body mass index is one of the strongest risk factors for new-onset chronic kidney disease. In individuals affected by obesity, a compensatory hyperfiltration occurs to meet the heightened metabolic demands of the increased body weight. The increase in intraglomerular pressure can damage the kidneys and raise the risk of developing chronic kidney disease in the long-term. The incidence of obesity-related glomerulopathy has increased 10-fold in recent years. Obesity has also been shown to be a risk factor for nephrolithiasis, and for a number of malignancies including kidney cancer. This year, the World Kidney Day promotes education on the harmful consequences of obesity and its association with kidney disease, advocating healthy lifestyle and health policy measures that make preventive behaviors an affordable option.

C-arm technique using distance driven method for nephrolithiasis and kidney stones detection

NASA Astrophysics Data System (ADS)

Malalla, Nuhad; Sun, Pengfei; Chen, Ying; Lipkin, Michael E.; Preminger, Glenn M.; Qin, Jun

2016-04-01

Distance driven represents a state of art method that used for reconstruction for x-ray techniques. C-arm tomography is an x-ray imaging technique that provides three dimensional information of the object by moving the C-shaped gantry around the patient. With limited view angle, C-arm system was investigated to generate volumetric data of the object with low radiation dosage and examination time. This paper is a new simulation study with two reconstruction methods based on distance driven including: simultaneous algebraic reconstruction technique (SART) and Maximum Likelihood expectation maximization (MLEM). Distance driven is an efficient method that has low computation cost and free artifacts compared with other methods such as ray driven and pixel driven methods. Projection images of spherical objects were simulated with a virtual C-arm system with a total view angle of 40 degrees. Results show the ability of limited angle C-arm technique to generate three dimensional images with distance driven reconstruction.

Gastrointestinal citrate absorption in nephrolithiasis

NASA Technical Reports Server (NTRS)

Fegan, J.; Khan, R.; Poindexter, J.; Pak, C. Y.

1992-01-01

Gastrointestinal absorption of citrate was measured in stone patients with idiopathic hypocitraturia to determine if citrate malabsorption could account for low urinary citrate. Citrate absorption was measured directly from recovery of orally administered potassium citrate (40 mEq.) in the intestinal lavage fluid, using an intestinal washout technique. In 7 stone patients citrate absorption, serum citrate levels, peak citrate concentration in serum and area under the curve were not significantly different from those of 7 normal subjects. Citrate absorption was rapid and efficient in both groups, with 96 to 98% absorbed within 3 hours. The absorption of citrate was less efficient from a tablet preparation of potassium citrate than from a liquid preparation, probably due to a delayed release of citrate from wax matrix. However, citrate absorption from solid potassium citrate was still high at 91%, compared to 98% for a liquid preparation. Thus, hypocitraturia is unlikely to be due to an impaired gastrointestinal absorption of citrate in stone patients without overt bowel disease.

Calcium, why and how much?

PubMed

Palmieri, G M

1995-01-01

Although calcium (Ca) is pivotal for the prevention of osteoporosis, its role in the prevention of other unrelated diseases such as arterial hypertension, cancer of the colon and nephrolithiasis is perplexing. No unitarian hypothesis explaining these unrelated effects of Ca has been postulated. Cytosolic Ca concentration is 10,000-fold lower than in the extracellular space, and this gradient is tightly maintained. Abnormal elevation of cytosolic Ca causes cell damage and death. Parathyroid hormone is a Ca agonist and the suppression of its secretion by Ca could explain the beneficial role of Ca intake in multiple diseases. Thus, parathyroid ablation improves hypertension in rats and cardiomyopathy in hamsters. Since anthropologic data suggests a higher Ca intake, of approximately 1,600 1,600 mg/day, in preneolithic than in modern diets, it is likely that our levels of PTH on genetically predisposed subjects with a loose cellular Ca control may aggravate frequent modern diseases and the process of aging. A higher Ca intake in both sexes should be one of the goals of preventive medicine of our time.

Intraluminal measurement of papillary duct urine pH, in vivo: a pilot study in the swine kidney.

PubMed

Handa, Rajash K; Lingeman, James E; Bledsoe, Sharon B; Evan, Andrew P; Connors, Bret A; Johnson, Cynthia D

2016-06-01

We describe the in vivo use of an optic-chemo microsensor to measure intraluminal papillary duct urine pH in a large mammal. Fiber-optic pH microsensors have a tip diameter of 140-µm that allows insertion into papillary Bellini ducts to measure tubule urine proton concentration. Anesthetized adult pigs underwent percutaneous nephrolithotomy to access the lower pole of the urinary collecting system. A flexible nephroscope was advanced towards an upper pole papilla with the fiber-optic microsensor contained within the working channel. The microsensor was then carefully inserted into Bellini ducts to measure tubule urine pH in real time. We successfully recorded tubule urine pH values in five papillary ducts from three pigs (1 farm pig and 2 metabolic syndrome Ossabaw pigs). Our results demonstrate that optical microsensor technology can be used to measure intraluminal urine pH in real time in a living large mammal. This opens the possibility for application of this optical pH sensing technology in nephrolithiasis.

Melamine nephrotoxicity: an emerging epidemic in an era of globalization.

PubMed

Bhalla, Vivek; Grimm, Paul C; Chertow, Glenn M; Pao, Alan C

2009-04-01

Recent outbreaks of nephrolithiasis and acute kidney injury among children in China have been linked to ingestion of milk-based infant formula contaminated with melamine. These cases provide evidence in humans for the nephrotoxicity of melamine, which previously had been described only in animals. The consequences of this outbreak are already severe and will likely continue to worsen. Herein we summarize the global impact of the melamine milk contamination, the reemergence of melamine-tainted animal feed, and potential mechanisms of melamine nephrotoxicity. Large-scale epidemiologic studies are necessary to further characterize this disease and to assess its potential long-term sequelae. This epidemic of environmental kidney disease highlights the morbidity associated with adulterated food products available in today's global marketplace and reminds us of the unique vulnerability of the kidney to environmental insults. Melamine is the latest in a growing list of diverse potentially toxic compounds about which nephrologists and other health-care providers responsible for the diagnosis and management of kidney disease must now be aware.

Bilateral renal milk of calcium masquerading as nephrolithiasis in patients with spinal cord injury.

PubMed

Vaidyanathan, Subramanian; Hughes, Peter L; Soni, Bakul M

2007-01-01

Milk of calcium is a viscous colloidal suspension of calcium carbonate, calcium phosphate, or calcium oxalate, or a mixture of these compounds. The calcific material gravitates to the dependent portion of a cystic cavity. Crescent- or hemisphere-shaped calcium density with a sharp horizontal upper border at the milk of calcium-clear fluid interface confirms the diagnosis. Bilateral milk of calcium in the renal pelvis or in dilated calyces is very rare and has not been reported in patients with spinal cord injury. A 63-year-old male patient with T-10 paraplegia presented with recurrent urinary tract infections. X-ray of the kidneys, taken with the vertical beam while the patient lay supine, revealed a poorly defined opacity overlying the lower pole of the right kidney. Findings on ultrasonography of the kidneys were interpreted as a large, staghorn-type calculus in the dilated lower pole calyx of the right kidney. Because x-ray of the kidneys showed a poorly defined opacity overlying the lower pole of the right kidney, milk of calcium was suspected, and computed tomography (CT) of the kidneys was performed. Calcific debris with horizontal layering in the lower pole calyces of both kidneys was seen; this confirmed the diagnosis of milk of calcium. A 62-year-old female patient with C-7 tetraplegia underwent ileal conduit urinary diversion. Subsequently, she developed calculi in the right kidney, which were treated with shock wave lithotripsy. Follow-up x-ray revealed faintly opaque shadows with indistinct margins in the region of both kidneys. Intravenous urography showed cortical thinning at the upper poles and blunting of the calyces, suggestive of chronic pyelonephritis. The right renal pelvis was bulky, and bilateral renal calculi were diagnosed during ultrasonography; however, the presence of faintly radio-opaque shadows with indistinct margins raised suspicions of renal milk of calcium. A CT scan of the kidneys, which was performed in the supine and subsequently in the prone position, revealed gravity-dependent layering of calcific material in the pelves of both kidneys and in the midpole calyces of the right kidney, thus confirming the diagnosis of milk of calcium. In conclusion, CT scan of the kidneys confirmed the diagnosis of bilateral renal milk of calcium, a very rare entity in patients with spinal cord injury. Awareness of typical and unique features of milk of calcium during imaging enables physicians to recognize renal milk of calcium and to differentiate it from nephrolithiasis, thereby avoiding unwarranted interventions such as shock wave lithotripsy or endoscopic procedures.

The Hypercalciurias CAUSES, PARATHYROID FUNCTIONS, AND DIAGNOSTIC CRITERIA

PubMed Central

Pak, Charles Y. C.; Ohata, Masahiro; Lawrence, E. Clint; Snyder, W.

1974-01-01

The causes for the hypercalciuria and diagnostic criteria for the various forms of hypercalciuria were sought in 56 patients with hypercalcemia or nephrolithiasis (Ca stones), by a careful assessment of parathyroid function and calcium metabolism. A study protocol for the evaluation of hypercalciuria, based on a constant liquid synthetic diet, was developed. In 26 cases of primary hyperparathyroidism, characteristic features were: hypercalcemia, high urinary cyclic AMP (cAMP, 8.58±3.63 SD μmol/g creatinine; normal, 4.02±0.70 μmol/g creatinine), high immunoreactive serum parathyroid hormone (PTH), hypercalciuria, the urinary Ca exceeding absorbed Ca from intestinal tract (CaA), high fasting urinary Ca (0.2 mg/mg creatinine or greater), and low bone density by 125I photon absorption. The results suggest that hypercalciuria is partly secondary to an excessive skeletal resorption (resorptive hypercalciuria). The 22 cases with renal stones had normocalcemia, hypercalciuria, intestinal hyperabsorption of calcium, normal or low serum PTH and urinary cAMP, normal fasting urinary Ca, and normal bone density. Since their CaA exceeded urinary Ca, the hypercalciuria probably resulted from an intestinal hyperabsorption of Ca (absorptive hypercalciuria). The primacy of intestinal Ca hyperabsorption was confirmed by responses to Ca load and deprivation under a metabolic dietary regimen. During a Ca load of 1,700 mg/day, there was an exaggerated increase in the renal excretion of Ca and a suppression of cAMP excretion. The urinary Ca of 453±154 SD mg/day was significantly higher than the control group's 211±42 mg/day. The urinary cAMP of 2.26±0.56 μmol/g creatinine was significantly lower than in the control group. In contrast, when the intestinal absorption of calcium was limited by cellulose phosphate, the hypercalciuria was corrected and the suppressed renal excretion of cAMP returned towards normal. Two cases with renal stones had normocalcemia, hypercalciuria, and high urinary cAMP or serum PTH. Since CaA was less than urinary Ca, the hypercalciuria may have been secondary to an impaired renal tubular reabsorption of Ca (renal hypercalciuria). Six cases with renal stones had normal values of serum Ca, urinary Ca, urinary cAMP, and serum PTH (normocalciuric nephrolithiasis). Their CaA exceeded urinary Ca, and fasting urinary Ca and bone density were normal. The results support the proposed mechanisms for the hypercalciuria and provide reliable diagnostic criteria for the various forms of hypercalciuria. PMID:4367891

Pathological Calcification and Ossification in Relation to Leriche and Policard's Theory

PubMed Central

Jones, Watson; Roberts, R. E.

1933-01-01

(1) Pathology of calcification and ossification.—The Leriche-Policard theories. Hyperæmia of bone causes decalcification. Reduced blood supply causes sclerosis. Diminution of vascularity of fibrous tissue causes calcification. Excess of calcium, adequate blood supply and fibroblasts give rise to bone anywhere. Subperiosteal ossification. “Myositis ossificans.” (2) Radiological significance of density of bone shadows.—Decalcification of disuse, of infections, of neoplasms. Traumatic and infective scquestra. Evidence that a fragment of bone is avascular. (3) Hyperæmic decalcification of bone.—Delayed and non-union of fractures. Kummel's disease. Spontaneous hyperæmic dislocation of the atlas. Hyperæmic decalcification and nephrolithiasis. (4) Anæmic sclerosis of bone.—Syphilitic bone disease. Malignant bone disease. Fragility of sclerosed bone—Paget's, Kienboch's, Kohler's and Panner's, Albers-Schönberg's diseases. (5) Pathological calcification.—Calcification of supraspinatus tendon. Calcification of tumours—angioma, hæmatoma, and thrombosed vessels, lipoma, cysts, etc. Calcification of semilunar cartilages and intervertebral discs. (6) Pathological ossification.—Ossification of tendons. Ossification of semilunar cartilages. PMID:19989304

The kidney in hyperuricemia and gout.

PubMed

Mount, David B

2013-03-01

Gout is a painful inflammatory arthritis associated with hyperuricemia, with a prevalence of almost 10 million in the USA. Reduced renal excretion of urate is the underlying hyperuricemic mechanism in the vast majority of gout patients; most of the genes that affect serum urate level (SUA) encode urate transporters or associated regulatory proteins. Acquired influences can also modulate SUA and renal urate excretion, sometimes precipitating acute gout. Coincidentally, the prevalence of renal comorbidities in gout - hypertension, chronic kidney disease (CKD), and nephrolithiasis - is very high. Recent advances in genetics and molecular physiology have greatly enhanced the understanding of renal reabsorption and secretion of filtered urate. Moreover, baseline SUA appears to be set by the net balance of absorption and secretion across epithelial cells in the kidney and intestine. There have also been substantial advances in the management of gout in patients with CKD. The stage is set for an increasingly molecular understanding of baseline and regulated urate transport by the kidney and intestine. The increasing prevalence of gout with CKD will be balanced by an expanding spectrum of therapeutic options for this important disease.

The Effect of Shift Work on Urogenital Disease: a Systematic Review.

PubMed

Deng, Nanfu; Haney, Nora M; Kohn, Taylor P; Pastuszak, Alexander W; Lipshultz, Larry I

2018-05-28

Non-standard shift work schedules negatively impact the overall health of shift workers, and several studies have shown that shift work, specifically, is detrimental to urogenital health. The aims of this study are to systematically review the literature and determine the effect of shift work on the outcomes of hypogonadism, male infertility, lower urinary tract symptoms, and urogenital cancers. Recent evidence supports associations between non-standard shift work and an increase in the frequency of prostate cancer and the severity of erectile dysfunction, lower urinary tract symptoms, and hypogonadal symptoms, as well as worsening of semen parameters and fertility. These associations are strengthened by the presence of shift work sleep disorder (SWSD) which affects up to 20% of shift workers. No studies have assessed the impact of shift work on the frequency or severity of nephrolithiasis, interstitial cystitis, pelvic pain, prostatitis, or urinary tract infections. Non-standard shift work has been associated with a variety of negative health outcomes and urologic complications, especially with concurrent shift work sleep disorder. Recognition of these elevated risks among shift workers can aid in more effective screening for urologic conditions.

Nephrotoxicity of Natural Products.

PubMed

Nauffal, Mary; Gabardi, Steven

2016-01-01

The manufacture and sale of natural products constitute a multi-billion dollar industry. Nearly a third of the American population admit to using some form of complementary or alternative medicine, with many using them in addition to prescription medications. Most patients fail to inform their healthcare providers of their natural product use and physicians rarely inquire. Annually, thousands of natural product-induced adverse events are reported to Poison Control Centers nationwide. Natural product manufacturers are not responsible for proving safety and efficacy, as the FDA does not regulate them. However, concerns exist surrounding the safety of natural products. This review provides details on natural products that have been associated with renal dysfunction. We have focused on products that have been associated with direct renal injury, immune-mediated nephrotoxicity, nephrolithiasis, rhabdomyolysis with acute renal injury, hepatorenal syndrome, and common adulterants or contaminants that are associated with renal dysfunction. The potential for natural products to cause renal dysfunction is justifiable. It is imperative that natural product use be monitored closely in all patients. Healthcare practitioners must play an active role in identifying patients using natural products and provide appropriate patient education. © 2016 S. Karger AG, Basel.

Non-functioning parathyroid adenoma: a rare differential diagnosis for vocal-cord paralysis

PubMed Central

Kamali, D; Sharpe, A; Nagarajan, S; Elsaify, W

2016-01-01

Introduction Adenomas of the parathyroid gland typically present with symptoms of hyperparathyroidism, manifested by fatigue, bone pain, abdominal pain, weakness, dyspepsia, nephrolithiasis and skeletal bone disease. Here, we describe, for the first time, a case of a non-functioning benign tumour of the parathyroid gland presenting as vocal-cord paralysis. Case History A 49-year-old male presented with a 10-week history of dysphonia and the feeling of having ‘something stuck in my throat’. History-taking elicited no other associated symptoms. Flexible nasal endoscopy demonstrated paralysis of the left vocal cord. Computed tomography of the neck revealed a cystic lesion, 18mm in diameter adjacent to the oesophagus. After more rigorous tests, a neck exploration, left hemithyroidectomy, excision of the left paratracheal mass and level-VI neck dissection was undertaken, without incident to the patient or surgical team. Histology was consistent with a parathyroid adenoma. Conclusions This case emphasises the importance of including adenomatous disease of the parathyroid gland in the differential diagnosis despite normal parathyroid status as a cause of vocal cord palsy. PMID:27055408

Kidney Stones as an Underrecognized Clinical Sign in Pediatric Cushing Disease.

PubMed

Rahman, Sara H; Papadakis, Georgios Z; Keil, Margaret F; Faucz, Fabio R; Lodish, Maya B; Stratakis, Constantine A

2016-03-01

To investigate the prevalence of kidney stones in a population of children with Cushing disease (CD) and to compare it with the prevalence of kidney stones in healthy children. Clinical and biochemical data from 139 pediatric patients with CD (68 females, 71 males) were analyzed retrospectively. Computed tomography scans were reviewed for kidney stones. Among 139 patients, 27 with CD (19.4%) had either radiographic evidence and/or a history of kidney stones. Those with kidney stones had higher urine free cortisol (P = .008) and transsphenoidal surgery at an older age (P = .007). The average urinary calcium/creatinine ratio was elevated in patients with CD (0.22 ± 0.11). The prevalence of kidney stones was higher in children with CD than in normal children (19.42% vs 1.0%; P < .001). Our results illustrate that kidney stones are an underestimated complication of pediatric CD, especially when compared with the prevalence of nephrolithiasis in the general pediatric population. Long-term consequences for kidney function are not known and need to be studied. Published by Elsevier Inc.

Normocalcemic primary hyperparathyroidism in clinical practice: an indolent condition or a silent threat?

PubMed Central

Marques, Thyciara Fontenele; Vasconcelos, Renata; Diniz, Erik; Rêgo, Daniela; Griz, Luiz; Bandeira, Francisco

2015-01-01

Objective To describe the characteristics of normocalcemic primary hyperparathyroidism (NPHPT) in patients seen for osteoporosis evaluation. Patients and methods We examined the records of 156 women who came to the hospital to be screened for osteoporosis. Measurements of total calcium, PTH, 25-hydroxy vitamin D, and β-C-telopeptide were recorded. Bone mineral density and T-scores were evaluated by densitometry of the lumbar spine, femoral neck and distal one-third of the radius. The latter was only measured in patients with primary hyperparathyroidism. Nephrolithiasis and bone fractures were documented by a review of the medical records. Results We identified 14 patients with NPHPT, accounting for 8.9% of the population studied. In the medical records, the occurrence of kidney stones was reported in 28.6% of the patients with NPHPT, in contrast with only 0.7% of the noncarriers. Regarding the presence of general fractures, 21.4% of the patients with NPHPT were affected versus 16.2% of noncarriers. Conclusion Data from our study suggest that NPHPT has a diverse phenotypic presentation, implying that this may not be an “indolent” disease. PMID:21881813

Left Lateral Sectionectomy of the Native Liver and Combined Living-Related Liver–Kidney Transplantation for Primary Hyperoxaluria Type 1

PubMed Central

Chen, Guo-Yong; Wei, Si-Dong; Zou, Zhong-Wu; Tang, Gao-Feng; Sun, Jian-Jun; Zhou, Shao-Tang

2015-01-01

Abstract Primary hyperoxaluria type I (PH1), the most severe form of primary hyperoxalurias, is a liver disease of the metabolic defect in glyoxylate detoxification that can be corrected by liver transplantation. A 21-year-old man presented to our center after 4 months of regular hemodialysis for kidney failure caused by nephrolithiasis. A diagnosis of PH1 was confirmed by mutations of the AGXT gene. Left lateral sectionectomy of the native liver was performed; and auxiliary partial orthotopic liver transplantation (APOLT) and kidney transplantation were carried out synchronously using a living donor. After transplantation, the patient's plasma oxalate and creatinine levels substantially decreased and the patient recovered well with good dual grafts function. APOLT and kidney transplantation can compensate the liver deficient in liver enzyme production and aid the renal elimination of oxalate, thus serving as an effective treatment option for patients with PH1. In conclusion, left lateral sectionectomy of the native liver and combined living-related liver–kidney transplantation can be a surgical option for PH1. PMID:26252291

[Hypercalciuria].

PubMed

Périmenis, P; Wémeau, J-L; Vantyghem, M-C

2005-12-01

The frequency of hypercalciuria is increasing in western countries with an incidence of nephrolithiasis which can reach 13%. Hypercalciuria appears as an alteration of the calcium transport system (kidney, bowel, bone) which is regulated by calcitriol and parathormone. The aim of this review was to screen etiologies of hypercalciuria taking into account recent genetic advances (calcium epithelial channel and calcium sensing receptor). Hypercalciuria may be favored by nutritional causes (diet rich in calcium, sodium, carbohydrates, proteins, poor in phosphates and potassium). It may also be related to an increase in calcium absorption (vitamin D excess, primary hyperparathyroidism, sarcoidosis, lymphoma, estrogens, and certain genetic causes), an increase in osteoresorption (bone metastasis, myeloma, Paget, hyperthyroidism, immobilization, hypercortisolism and corticosteroid therapy), or a decrease of kidney tubular resorption (diuretics, Cacci and Ricci, acromegally, Bartter, familial dominant hypocalcemia, Fanconi, Dent, familial hypomagnesemia-hypercalciuria syndrome, type 1 distal tubular acidosis, pseudohypoaldosteronism, diabetes). If no cause is identified, persistence of hypercalciuria after instituting a correct diet is defined as idiopathic hypercalciuria. Treatment of the cause is essential in secondary hypercalciuria, in addition to diet (low sodium intake, normocalcic diet, hydration), associated with thiazide diuretics and biphosphonates if necessary.

An improvement project within urological care.

PubMed

Khatami, Annelie; Rosengren, Kristina

2015-01-01

The purpose of this paper is to describe staff experiences in an on-going improvement project regarding patients with ureteral stones. A qualitative descriptive study based on eight group interviews and 48 narratives, was performed. Data were analysed using qualitative content analysis. Trustworthiness was ensured by using a well-documented improvement process method during six months. The results formed three categories: an absent comprehensive view; complexity; and vulnerability within the organisation. A holistic perspective regarding urological care at the micro-, meso- and macro-levels is needed to improve planning and caring processes. This study includes one team (six members, different health professionals) within the same urology department. Results show that staff need information, such as guidelines and support throughout the improvement work to deliver high-quality care. Moreover, there is a need for evidence-based guidelines at national level to support improvement work. Healthcare staff need to pay attention to all team member needs to improve urological care. Organisational and managerial aspect are needed to support clear and common goals regarding healthcare improvement work. Urological improvement projects, generally, are lacking, which is why this study is important to improve nephrolithiasis patient care.

An Organ System Approach to Explore the Antioxidative, Anti-Inflammatory, and Cytoprotective Actions of Resveratrol

PubMed Central

Bath, Sundeep

2015-01-01

Resveratrol is a phenolic phytochemical, with a stilbene backbone, derived from edible plants such as grape and peanut. It is a bioactive molecule with physiological effects on multiple organ systems. Its effects range from the neuroprotective to the nephroprotective, including cardiovascular, neuronal, and antineoplastic responses as a part of its broad spectrum of action. In this review, we examine the effects of resveratrol on the following organ systems: the central nervous system, including neurological pathology such as Parkinson's and Alzheimer's disease; the cardiovascular system, including disorders such as atherosclerosis, ischemia-reperfusion injury, and cardiomyocyte hypertrophy; the kidneys, including primary and secondary nephropathies and nephrolithiasis; multiple forms of cancer; and metabolic syndromes including diabetes. We emphasize commonalities in extracellular matrix protein alterations and intracellular signal transduction system induction following resveratrol treatment. We summarize the known anti-inflammatory, antioxidative, and cytoprotective effects of resveratrol across disparate organ systems. Additionally, we analyze the available literature regarding the pharmacokinetics of resveratrol formulations used in these studies. Finally, we critically examine select clinical trials documenting a lack of effect following resveratrol treatment. PMID:26180596

Nephrolithiasis in identical twins: the impact of nature vs nurture.

PubMed

Haleblian, George E; Cantor, David A; Sur, Roger L; Assimos, Dean G; Preminger, Glenn M

2007-09-01

To assess possible underlying metabolic abnormalities in three sets of monozygotic twins, to evaluate the interplay among the factors of kidney stone formation, a complex multifactorial process influenced by environmental, genetic and anatomical factors. Three sets of identical twins with either cystine or calcium oxalate stones were identified. Demographic data, medical histories and the results of 24-h urine testing, with samples collected on self-selected diets, were reviewed and analysed. The cystinuric twins had very similar cystine excretion rates, while stone activity was significantly more pronounced in one. Metabolic abnormalities were concordant in one set of twins with calcium oxalate stones, both being hypercalciuric and hyperuricosuric. However, metabolic abnormalities were discordant in the other pair, one twin with hypercalciuria and the other with hypocitraturia. Two of the three pairs had low urinary volume. These results support previous observations that environmental, genetic and potentially, anatomical factors play roles in kidney-stone formation. Additional controlled studies of monozygotic stone-forming twins might help to define the interplay between environmental and genetic factors, and allow the identification of susceptibility genes involved in stone generation.

Serum uric acid levels and multiple health outcomes: umbrella review of evidence from observational studies, randomised controlled trials, and Mendelian randomisation studies.

PubMed

Li, Xue; Meng, Xiangrui; Timofeeva, Maria; Tzoulaki, Ioanna; Tsilidis, Konstantinos K; Ioannidis, John PA; Campbell, Harry; Theodoratou, Evropi

2017-06-07

Objective  To map the diverse health outcomes associated with serum uric acid (SUA) levels. Design  Umbrella review. Data sources  Medline, Embase, Cochrane Database of Systematic Reviews, and screening of citations and references. Eligibility criteria  Systematic reviews and meta-analyses of observational studies that examined associations between SUA level and health outcomes, meta-analyses of randomised controlled trials that investigated health outcomes related to SUA lowering treatment, and Mendelian randomisation studies that explored the causal associations of SUA level with health outcomes. Results  57 articles reporting 15 systematic reviews and144 meta-analyses of observational studies (76 unique outcomes), 8 articles reporting 31 meta-analyses of randomised controlled trials (20 unique outcomes), and 36 articles reporting 107 Mendelian randomisation studies (56 unique outcomes) met the eligibility criteria. Across all three study types, 136 unique health outcomes were reported. 16 unique outcomes in meta-analyses of observational studies had P<10 -6 , 8 unique outcomes in meta-analyses of randomised controlled trials had P<0.001, and 4 unique outcomes in Mendelian randomisation studies had P<0.01. Large between study heterogeneity was common (80% and 45% in meta-analyses of observational studies and of randomised controlled trials, respectively). 42 (55%) meta-analyses of observational studies and 7 (35%) meta-analyses of randomised controlled trials showed evidence of small study effects or excess significance bias. No associations from meta-analyses of observational studies were classified as convincing; five associations were classified as highly suggestive (increased risk of heart failure, hypertension, impaired fasting glucose or diabetes, chronic kidney disease, coronary heart disease mortality with high SUA levels). Only one outcome from randomised controlled trials (decreased risk of nephrolithiasis recurrence with SUA lowering treatment) had P<0.001, a 95% prediction interval excluding the null, and no large heterogeneity or bias. Only one outcome from Mendelian randomisation studies (increased risk of gout with high SUA levels) presented convincing evidence. Hypertension and chronic kidney disease showed concordant evidence in meta-analyses of observational studies, and in some (but not all) meta-analyses of randomised controlled trials with respective intermediate or surrogate outcomes, but they were not statistically significant in Mendelian randomisation studies. Conclusion  Despite a few hundred systematic reviews, meta-analyses, and Mendelian randomisation studies exploring 136 unique health outcomes, convincing evidence of a clear role of SUA level only exists for gout and nephrolithiasis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Bladder stones after bladder augmentation are not what they seem.

PubMed

Szymanski, Konrad M; Misseri, Rosalia; Whittam, Benjamin; Lingeman, James E; Amstutz, Sable; Ring, Joshua D; Kaefer, Martin; Rink, Richard C; Cain, Mark P

2016-04-01

Bladder and renal calculi after bladder augmentation are thought to be primarily infectious, yet few studies have reported stone composition. The primary aim was to assess bladder stone composition after augmentation, and renal stone composition in those with subsequent nephrolithiasis. The exploratory secondary aim was to screen for possible risk factors for developing infectious stones. Patients treated for bladder stones after bladder augmentation at the present institution between 1981 and 2012 were retrospectively reviewed. Data were collected on demographics, surgeries and stone composition. Patients without stone analysis were excluded. Stones containing struvite, carbonate apatite or ammonium acid ureate were classified as infectious. The following variables were analyzed for a possible association with infectious bladder stone composition: gender, history of cloacal exstrophy, ambulatory status, nephrolithiasis, recurrent urea-splitting urinary tract infections, first vs recurrent stones, timing of presentation with a calculus, history of bladder neck procedures, catheterizable channel and vesicoureteral reflux. Fisher's exact test was used for analysis. Of the 107 patients with bladder stones after bladder augmentation, 85 met inclusion criteria. Median age at augmentation was 8.0 years (follow-up 10.8 years). Forty-four patients (51.8%) recurred (14 multiple recurrences, 143 bladder stones). Renal calculi developed in 19 (22.4%) patients with a bladder stone, and 10 (52.6%) recurred (30 renal stones). Overall, 30.8% of bladder stones were non-infectious (Table). Among patients recurring after an infectious bladder stone, 30.4% recurred with a non-infectious one. Among patients recurring after a non-infectious stone, 84.6% recurred with a non-infectious one (P = 0.005). Compared with bladder stones, renal stones were more likely to be non-infectious (60.0%, P = 0.003). Of patients with recurrent renal calculi after an infectious stone, 40.0% recurred with a non-infectious one. No clinical variables were significantly associated with infectious stone composition on univariate (≥0.28) or bivariate analysis (≥0.36). This study had several limitations: it was not possible to accurately assess adherence with bladder irrigations, and routine metabolic evaluations were not performed. The findings may not apply to patients in all clinical settings. While stone analysis was available for 3/4 of the stones, similar rates of incomplete stone analyses have been reported in other series. In patients with bladder augmentation, 1/3 of bladder stones and >1/2 of renal stones were non-infectious. Furthermore, an infectious stone does not imply an infectious recurrent stone and no known clinical variables appear to be associated with stone composition, suggesting that there is a possible metabolic component in stone formation after bladder augmentation. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Vitamin D supplementation for prevention of mortality in adults.

PubMed

Bjelakovic, Goran; Gluud, Lise Lotte; Nikolova, Dimitrinka; Whitfield, Kate; Wetterslev, Jørn; Simonetti, Rosa G; Bjelakovic, Marija; Gluud, Christian

2011-07-06

The available evidence on vitamin D and mortality is inconclusive. To assess the beneficial and harmful effects of vitamin D for prevention of mortality in adults. We searched The Cochrane Library, MEDLINE, EMBASE, LILACS, the Science Citation Index Expanded, and Conference Proceedings Citation Index-Science (to January 2011). We scanned bibliographies of relevant publications and asked experts and pharmaceutical companies for additional trials. We included randomised trials that compared vitamin D at any dose, duration, and route of administration versus placebo or no intervention. Vitamin D could have been administered as supplemental vitamin D (vitamin D(3) (cholecalciferol) or vitamin D(2) (ergocalciferol)) or an active form of vitamin D (1α-hydroxyvitamin D (alfacalcidol) or 1,25-dihydroxyvitamin D (calcitriol)). Six authors extracted data independently. Random-effects and fixed-effect model meta-analyses were conducted. For dichotomous outcomes, we calculated the risk ratios (RR). To account for trials with zero events, meta-analyses of dichotomous data were repeated using risk differences (RD) and empirical continuity corrections. Risk of bias was considered in order to minimise risk of systematic errors. Trial sequential analyses were conducted to minimise the risk of random errors. Fifty randomised trials with 94,148 participants provided data for the mortality analyses. Most trials included elderly women (older than 70 years). Vitamin D was administered for a median of two years. More than one half of the trials had a low risk of bias. Overall, vitamin D decreased mortality (RR 0.97, 95% confidence interval (CI) 0.94 to 1.00, I(2) = 0%). When the different forms of vitamin D were assessed separately, only vitamin D(3) decreased mortality significantly (RR 0.94, 95% CI 0.91 to 0.98, I(2) = 0%; 74,789 participants, 32 trials) whereas vitamin D(2), alfacalcidol, or calcitriol did not. Trial sequential analysis supported our finding regarding vitamin D(3), corresponding to 161 individuals treated to prevent one additional death. Vitamin D(3) combined with calcium increased the risk of nephrolithiasis (RR 1.17, 95% CI 1.02 to 1.34, I(2) = 0%). Alfacalcidol and calcitriol increased the risk of hypercalcaemia (RR 3.18, 95% CI 1.17 to 8.68, I(2) = 17%). Data on health-related quality of life and health economics were inconclusive. Vitamin D in the form of vitamin D(3) seems to decrease mortality in predominantly elderly women who are mainly in institutions and dependent care. Vitamin D(2), alfacalcidol, and calcitriol had no statistically significant effect on mortality. Vitamin D(3) combined with calcium significantly increased nephrolithiasis. Both alfacalcidol and calcitriol significantly increased hypercalcaemia.

Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat

PubMed Central

Panigrahi, Padma Nibash; Dey, Sahadeb; Sahoo, Monalisa; Dan, Ananya

2017-01-01

Objective: Musa paradisiaca has been used in the treatment of urolithiasis by the rural people in South India. Therefore, we plan to evaluate its efficacy and possible mechanism of antiurolithiatic effect to rationalize its medicinal use. Materials and Methods: Urolithiasis was induced in hyperoxaluric rat model by giving 0.75% ethylene glycol (EG) for 28 days along with 1% ammonium chloride (AC) for the first 14 days. Antiurolithiatic effect of aqueous-ethanol extract of M. paradisiaca pseudostem (MUSA) was evaluated based on urine and serum biochemistry, microscopy of urine, oxidative/nitrosative indices, kidney calcium content, and histopathology. Results: Administration of EG and AC resulted in increased crystalluria and oxaluria, hypercalciuria, polyuria, crystal deposition in urine, raised serum urea, and creatinine as well as nitric oxide concentration and erythrocytic lipid peroxidation in lithiatic group. However, MUSA treatment significantly restored the impairment in above kidney function test as that of standard treatment, cystone in a dose-dependent manner. Conclusions: The present findings demonstrate the efficacy of MUSA in EG-induced urolithiasis, which might be mediated through inhibiting various pathways involved in renal calcium oxalate formation, antioxidant effect, and potential to inhibit biochemical markers of renal impairment. PMID:28458427

Fasting: The History, Pathophysiology and Complications

PubMed Central

Kerndt, Peter R.; Naughton, James L.; Driscoll, Charles E.; Loxterkamp, David A.

1982-01-01

An appreciation of the physiology of fasting is essential to the understanding of therapeutic dietary interventions and the effect of food deprivation in various diseases. The practice of prolonged fasting for political or religious purposes is increasing, and a physician is likely to encounter such circumstances. Early in fasting weight loss is rapid, averaging 0.9 kg per day during the first week and slowing to 0.3 kg per day by the third week; early rapid weight loss is primarily due to negative sodium balance. Metabolically, early fasting is characterized by a high rate of gluconeogenesis with amino acids as the primary substrates. As fasting continues, progressive ketosis develops due to the mobilization and oxidation of fatty acids. As ketone levels rise they replace glucose as the primary energy source in the central nervous system, thereby decreasing the need for gluconeogenesis and sparing protein catabolism. Several hormonal changes occur during fasting, including a fall in insulin and T3 levels and a rise in glucagon and reverse T3 levels. Most studies of fasting have used obese persons and results may not always apply to lean persons. Medical complications seen in fasting include gout and urate nephrolithiasis, postural hypotension and cardiac arrhythmias. ImagesFigure 4. PMID:6758355

Effects of polyphenols from grape seeds on renal lithiasis.

PubMed

Grases, Felix; Prieto, Rafel M; Fernandez-Cabot, Rafel A; Costa-Bauzá, Antonia; Tur, Fernando; Torres, Jose Juan

2015-01-01

Nephrolithiasis is a complex disease that results from a combination of factors related to both urine composition and kidney morphoanatomy. Development of calcium oxalate monohydrate papillary calculi is linked to initial subepithelial calcification of renal papilla. Progressive tissue calcification depends on preexisting injury and involves reactive oxygen species. Many plant extracts that protect against oxidative stress manifest antilithiasic activity. Our study focused on determining the effects of polyphenols on a lithiasis rat model. Rats were pretreated with polyphenols and grape seed extracts, followed by posterior induction of hyperoxalosis via treatment with ethylene glycol plus NH4Cl. The concentrations of calcium and other elements in kidney were determined, along with histological examination of kidney and 24 h urine analysis. Significant differences were observed in the renal calcium content between the control plus ethylene glycol-treated group and the epicatechin plus ethylene glycol-treated, red grape seed extract plus ethylene glycol-treated, and white grape seed extract plus ethylene glycol-treated groups, with reductions of about 50%. The antioxidant activity of polyphenols extracted from red and white grape seeds may be critical in the prevention of calcium oxalate monohydrate papillary calculus formation, particularly if calculi are induced by lesions caused by cytotoxic compounds with oxidative capacity.

Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat.

PubMed

Panigrahi, Padma Nibash; Dey, Sahadeb; Sahoo, Monalisa; Dan, Ananya

2017-01-01

Musa paradisiaca has been used in the treatment of urolithiasis by the rural people in South India. Therefore, we plan to evaluate its efficacy and possible mechanism of antiurolithiatic effect to rationalize its medicinal use. Urolithiasis was induced in hyperoxaluric rat model by giving 0.75% ethylene glycol (EG) for 28 days along with 1% ammonium chloride (AC) for the first 14 days. Antiurolithiatic effect of aqueous-ethanol extract of M. paradisiaca pseudostem (MUSA) was evaluated based on urine and serum biochemistry, microscopy of urine, oxidative/nitrosative indices, kidney calcium content, and histopathology. Administration of EG and AC resulted in increased crystalluria and oxaluria, hypercalciuria, polyuria, crystal deposition in urine, raised serum urea, and creatinine as well as nitric oxide concentration and erythrocytic lipid peroxidation in lithiatic group. However, MUSA treatment significantly restored the impairment in above kidney function test as that of standard treatment, cystone in a dose-dependent manner. The present findings demonstrate the efficacy of MUSA in EG-induced urolithiasis, which might be mediated through inhibiting various pathways involved in renal calcium oxalate formation, antioxidant effect, and potential to inhibit biochemical markers of renal impairment.

Nephrotoxicity and Chinese Herbal Medicine.

PubMed

Yang, Bo; Xie, Yun; Guo, Maojuan; Rosner, Mitchell H; Yang, Hongtao; Ronco, Claudio

2018-04-03

Chinese herbal medicine has been practiced for the prevention, treatment, and cure of diseases for thousands of years. Herbal medicine involves the use of natural compounds, which have relatively complex active ingredients with varying degrees of side effects. Some of these herbal medicines are known to cause nephrotoxicity, which can be overlooked by physicians and patients due to the belief that herbal medications are innocuous. Some of the nephrotoxic components from herbs are aristolochic acids and other plant alkaloids. In addition, anthraquinones, flavonoids, and glycosides from herbs also are known to cause kidney toxicity. The kidney manifestations of nephrotoxicity associated with herbal medicine include acute kidney injury, CKD, nephrolithiasis, rhabdomyolysis, Fanconi syndrome, and urothelial carcinoma. Several factors contribute to the nephrotoxicity of herbal medicines, including the intrinsic toxicity of herbs, incorrect processing or storage, adulteration, contamination by heavy metals, incorrect dosing, and interactions between herbal medicines and medications. The exact incidence of kidney injury due to nephrotoxic herbal medicine is not known. However, clinicians should consider herbal medicine use in patients with unexplained AKI or progressive CKD. In addition, exposure to herbal medicine containing aristolochic acid may increase risk for future uroepithelial cancers, and patients require appropriate postexposure screening. Copyright © 2018 by the American Society of Nephrology.

Beethoven's autopsy revisited: A pathologist sounds a final note.

PubMed

Oiseth, Stanley J

2017-08-01

This review of the original autopsy report of Beethoven's remains indicates Paget's disease within the skull, which was dense and twice normal thickness, with dilated vessels at the petrous bone. The facial nerves were enlarged and the eighth nerves atrophied despite their sharing a common meatus at the internal auditory canal. Nephrolithiasis and pyelonephritis with cortical and perinephric abscesses were also reported. The hypercalcaemia was probably caused by hyperparathyroidism, which may be associated with Paget's disease, and both may have played a role in his psychiatric symptoms as well as in his abdominal pain and gastrointestinal complaints. Since Paget's disease may also be associated with gout, some of the joint pains could be attributable to this as well. Hypovitaminosis A from chronic pancreatitis is suggested as a cause of painful eyes and either quinine abuse or severe hypercalcaemia as a cause of arrhythmias. Beethoven died of terminal cirrhosis with chronic pancreatitis, most likely related to chronic excessive intake of alcohol. Thus, Paget's disease, complicated by hyperparathyroidism, gout, and attempts to find relief of symptoms through the use of alcohol, quinine, and possibly salicylates can explain virtually all of Beethoven's medical problems, some of which appear to have influenced his musical compositions.

Diagnosis and management of Crohn's disease.

PubMed

Wilkins, Thad; Jarvis, Kathryn; Patel, Jigneshkumar

2011-12-15

Crohn's disease is a chronic inflammatory condition affecting the gastrointestinal tract at any point from the mouth to the rectum. Patients may experience diarrhea, abdominal pain, fever, weight loss, abdominal masses, and anemia. Extraintestinal manifestations of Crohn's disease include osteoporosis, inflammatory arthropathies, scleritis, nephrolithiasis, cholelithiasis, and erythema nodosum. Acute phase reactants, such as C-reactive protein level and erythrocyte sedimentation rate, are often increased with inflammation and may correlate with disease activity. Levels of vitamin B12, folate, albumin, prealbumin, and vitamin D can help assess nutritional status. Colonoscopy with ileoscopy, capsule endoscopy, computed tomography enterography, and small bowel follow-through are often used to diagnose Crohn's disease. Ultrasonography, computed axial tomography, scintigraphy, and magnetic resonance imaging can assess for extraintestinal manifestations or complications (e.g., abscess, perforation). Mesalamine products are often used for the medical management of mild to moderate colonic Crohn's disease. Antibiotics (e.g., metronidazole, fluoroquinolones) are often used for treatment. Patients with moderate to severe Crohn's disease are treated with corticosteroids, azathioprine, 6-mercaptopurine, or anti-tumor necrosis factor agents (e.g., infliximab, adalimumab). Severe disease may require emergent hospitalization and a multidisciplinary approach with a family physician, gastroenterologist, and surgeon.

Primary hyperparathyroidism: recent advances.

PubMed

Walker, Marcella D; Bilezikian, John P

2018-07-01

The purpose of this review is to describe recent advances and changes in the evaluation and management of primary hyperparathyroidism (PHPT). Although it has long been recognized that asymptomatic PHPT is associated with bone loss, particularly at cortical skeletal sites when evaluated with dual-energy X-ray absorptiometry, new imaging techniques suggest that trabecular skeletal deterioration as well as clinically silent vertebral fractures and nephrolithiasis are common. Nonclassical targets of asymptomatic PHPT as well as the effect of vitamin D deficiency and treatment upon PHPT presentation have been the subject of recent intense investigation. Randomized clinical trials are now available regarding the effect of parathyroidectomy (PTX) upon both classical and nonclassical target organs. They have confirmed results from observational studies with regard to the skeletal benefits of PTX but have not consistently shown improvements in nonclassical symptoms. These findings have led to recommendations for more extensive renal and skeletal evaluation and broader criteria for PTX in PHPT. In addition to dual-energy X-ray absorptiometry, vertebral and renal imaging is recommended. When available, trabecular imaging techniques may be helpful. PTX criteria now include subclinical kidney stones, vertebral fractures and hypercalciuria, in addition to those based on age, serum calcium, bone densitometry and renal function.

Vitamin D, Hypercalciuria and Kidney Stones

PubMed Central

Letavernier, Emmanuel; Daudon, Michel

2018-01-01

The estimated lifetime risk of nephrolithiasis is growing nowadays, and the formation of kidney stones is frequently promoted by hypercalciuria. Vitamin D, and especially its active metabolite calcitriol, increase digestive calcium absorption—as urinary calcium excretion is directly correlated with digestive calcium absorption, vitamin D metabolites could theoretically increase calciuria and promote urinary stone formation. Nevertheless, there was, until recently, low evidence that 25-hydroxyvitamin D serum levels would be correlated with kidney stone formation, even if high calcitriol concentrations are frequently observed in hypercalciuric stone formers. Low 25-hydroxyvitamin D serum levels have been associated with a broad spectrum of diseases, leading to a huge increase in vitamin D prescription in the general population. In parallel, an increased frequency of kidney stone episodes has been observed in prospective studies evaluating vitamin D alone or in association with calcium supplements, and epidemiological studies have identified an association between high 25-hydroxyvitamin D serum levels and kidney stone formation in some groups of patients. Moreover, urinary calcium excretion has been shown to increase in response to vitamin D supplements, at least in some groups of kidney stone formers. It seems likely that predisposed individuals may develop hypercalciuria and kidney stones in response to vitamin D supplements. PMID:29562593

Idiopathic hypercalciuria and formation of calcium renal stones

PubMed Central

Coe, Fredric L.; Worcester, Elaine M.; Evan, Andrew P.

2018-01-01

The most common presentation of nephrolithiasis is idiopathic calcium stones in patients without systemic disease. Most stones are primarily composed of calcium oxalate and form on a base of interstitial apatite deposits, known as Randall’s plaque. By contrast some stones are composed largely of calcium phosphate, as either hydroxyapatite or brushite (calcium monohydrogen phosphate), and are usually accompanied by deposits of calcium phosphate in the Bellini ducts. These deposits result in local tissue damage and might serve as a site of mineral overgrowth. Stone formation is driven by supersaturation of urine with calcium oxalate and brushite. The level of supersaturation is related to fluid intake as well as to the levels of urinary citrate and calcium. Risk of stone formation is increased when urine citrate excretion is <400 mg per day, and treatment with potassium citrate has been used to prevent stones. Urine calcium levels >200 mg per day also increase stone risk and often result in negative calcium balance. Reduced renal calcium reabsorption has a role in idiopathic hypercalciuria. Low sodium diets and thiazide-type diuretics lower urine calcium levels and potentially reduce the risk of stone recurrence and bone diseas PMID:27452364

Nephropathy in dietary hyperoxaluria: A potentially preventable acute or chronic kidney disease

PubMed Central

Glew, Robert H; Sun, Yijuan; Horowitz, Bruce L; Konstantinov, Konstantin N; Barry, Marc; Fair, Joanna R; Massie, Larry; Tzamaloukas, Antonios H

2014-01-01

Hyperoxaluria can cause not only nephrolithiasis and nephrocalcinosis, but also renal parenchymal disease histologically characterized by deposition of calcium oxalate crystals throughout the renal parenchyma, profound tubular damage and interstitial inflammation and fibrosis. Hyperoxaluric nephropathy presents clinically as acute or chronic renal failure that may progress to end-stage renal disease (ESRD). This sequence of events, well recognized in the past in primary and enteric hyperoxalurias, has also been documented in a few cases of dietary hyperoxaluria. Estimates of oxalate intake in patients with chronic dietary hyperoxaluria who developed chronic kidney disease or ESRD were comparable to the reported average oxalate content of the diets of certain populations worldwide, thus raising the question whether dietary hyperoxaluria is a primary cause of ESRD in these regions. Studies addressing this question have the potential of improving population health and should be undertaken, alongside ongoing studies which are yielding fresh insights into the mechanisms of intestinal absorption and renal excretion of oxalate, and into the mechanisms of development of oxalate-induced renal parenchymal disease. Novel preventive and therapeutic strategies for treating all types of hyperoxaluria are expected to develop from these studies. PMID:25374807

Bone disease in primary hyperparathyroidism

PubMed Central

Bandeira, Francisco; Cusano, Natalie E.; Silva, Barbara C.; Cassibba, Sara; Almeida, Clarissa Beatriz; Machado, Vanessa Caroline Costa; Bilezikian, John P.

2015-01-01

Bone disease in severe primary hyperparathyroidism (PHPT) is described classically as osteitis fibrosa cystica (OFC). Bone pain, skeletal deformities and pathological fractures are features of OFC. Bone mineral density is usually extremely low in OFC, but it is reversible after surgical cure. The signs and symptoms of severe bone disease include bone pain, pathologic fractures, proximal muscle weakness with hyperreflexia. Bone involvement is typically characterized as salt-and-pepper appearance in the skull, bone erosions and bone resorption of the phalanges, brown tumors and cysts. In the radiography, diffuse demineralization is observed, along with pathological fractures, particularly in the long bones of the extremities. In severe, symptomatic PHPT, marked elevation of the serum calcium and PTH concentrations are seen and renal involvement is manifested by nephrolithiasis and nephrocalcinosis. A new technology, recently approved for clinical use in the United States and Europe, is likely to become more widely available because it is an adaptation of the lumbar spine DXA image. Trabecular bone score (TBS) is a gray-level textural analysis that provides an indirect index of trabecular microarchitecture. Newer technologies, such as high-resolution peripheral quantitative computed tomography (HR-pQCT), have provided further understanding of the microstructural skeletal features in PHPT. PMID:25166047

Percutaneous Approach to a Complicated Case of Nephrolithiasis in a Pregnant Woman: A Case Study.

PubMed

Giusti, Giuseppe; Abate, Danilo; De Lisa, Antonello

2016-01-01

Lithiasis during pregnancy can be a serious problem representing a danger to both the mother and the fetus. Surgical intervention is needed in approximately one-third of patients reporting pain despite analgesia and/or signs of persistent infection and obstruction, but there is a lack of consensus in the scientific literature as to the use of the most appropriate procedure to treat this condition. We describe our experience in the treatment of a complicated reno-ureteral lithiasis in a 27-year-old patient in the first trimester of pregnancy. The patient had a calcified ureteral stent with associated stone formation in the right kidney and a bladder stone at the distal extremity of the stent. She was treated by a combined approach by percutaneous nephrolithotripsy and transurethral cystolithotripsy. The procedure we performed was effective. Our experience reinforces the feasibility and safety of the kidney stone removal by the percutaneous approach also in a pregnant patient and supports the recommendations of the European guidelines: "in experienced centers, where necessary, percutaneous nephrolithotripsy should be considered." The technical precautions taken have proven to be valid and are supported by the current literature. Therefore, we feel they can be recommended.

Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1.

PubMed

Pirulli, D; Giordano, M; Lessi, M; Spanò, A; Puzzer, D; Zezlina, S; Boniotto, M; Crovella, S; Florian, F; Marangella, M; Momigliano-Richiardi, P; Savoldi, S; Amoroso, A

2001-06-01

Primary hyperoxaluria type 1 is an autosomal recessive disorder of glyoxylate metabolism, caused by a deficiency of alanine:glyoxylate aminotransferase, which is encoded by a single copy gene (AGXT. The aim of this research was to standardize denaturing high-performance liquid chromatography, a new, sensitive, relatively inexpensive, and automated technique, for the detection of AGXT mutation. Denaturing high-performance liquid chromatography was used to analyze in blind the AGXT gene in 20 unrelated Italian patients with primary hyperoxaluria type I previously studied by other standard methods (single-strand conformation polymorphism analysis and direct sequencing) and 50 controls. Denaturing high-performance liquid chromatography allowed us to identify 13 mutations and the polymorphism at position 154 in exon I of the AGXT gene. Hence the method is more sensitive and less time consuming than single-strand conformation polymorphism analysis for the detection of AGXT mutations, thus representing a useful and reliable tool for detecting the mutations responsible for primary hyperoxaluria type 1. The new technology could also be helpful in the search for healthy carriers of AGXT mutations amongst family members and their partners, and for screening of AGXT polymorphisms in patients with nephrolithiasis and healthy populations.

Late diagnosis of primary hyperoxaluria after failed kidney transplantation.

PubMed

Spasovski, Goce; Beck, Bodo B; Blau, Nenad; Hoppe, Bernd; Tasic, Velibor

2010-09-01

Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria leads to recurrent formation of calculi and/or nephrocalcinosis and often early end-stage renal disease (ESRD) accompanied by systemic calcium oxalate crystal deposition. In this report, we describe an adult female patient with only one stone passage before development of ESRD. With unknown diagnosis of PH, the patient received an isolated kidney graft and developed an early onset of graft failure. Although initially presumed as an acute rejection, the biopsy revealed calcium oxalate crystals, which then raised a suspicion of primary hyperoxaluria. The diagnosis was later confirmed by hyperoxaluria, elevated plasma oxalate levels and mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations. Plasma oxalate levels did not decrease after high-dose pyridoxine treatment. Based on this case report, we would recommend in all patients even with a minor history of nephrolithiasis but progression to chronic renal failure to exclude primary hyperoxaluria before isolated kidney transplantation is considered.

Genetic analysis--a diagnostic tool for primary hyperoxaluria type I.

PubMed

Milosevic, Danko; Rinat, Choni; Batinic, Danica; Frishberg, Yaacov

2002-11-01

Primary hyperoxaluria type I is an autosomal recessive metabolic disease in which excessive oxalates are formed by the liver and excreted by the kidneys, causing a wide spectrum of disease, ranging from renal failure in infancy to mere renal stones in late adulthood. The diagnosis may be suspected when clinical signs and increased urinary oxalate and glycolate excretion present, and is confirmed by the measurement of decreased alanine:glyoxylate aminotransferase activity in a liver sample. The enzymatic assay is not readily available to pediatric nephrologists in many parts of the world. We describe three families from Croatia in whom the diagnosis of primary hyperoxaluria was solely based on clinical findings that included nephrolithiasis and nephrocalcinosis accompanied by increased urinary oxalates and glycolate excretion, as enzymatic assays of liver samples could not be performed. Mutation analysis of the AGXT gene encoding the defective enzyme confirmed the diagnosis, revealing three alleles carrying the C156ins mutation and two the G630A mutation. Screening first-degree relatives for the relevant mutation disclosed an asymptomatic affected sibling. Mutation analysis of the AGXT gene is a non-invasive and accurate tool for the diagnosis of type I primary hyperoxaluria that may replace enzymatic assays of liver biopsies.

Mediterranean Diet and Health Outcomes in the SUN Cohort

PubMed Central

Carlos, Silvia; De La Fuente-Arrillaga, Carmen; Bes-Rastrollo, Maira; Razquin, Cristina; Rico-Campà, Anaïs; Martínez-González, Miguel Angel

2018-01-01

The Mediterranean Dietary (MedDiet) Pattern has been linked to many beneficial health effects. This review summarizes the main findings of a prospective cohort study, the Seguimiento Universidad de Navarra (SUN) cohort, specifically focused on MedDiet and the risk of major chronic disease. It is an open cohort in which 22,786 Spanish university graduates have participated since 1999 until February 2018. Data on diet, lifestyle and clinical diagnosis are collected at baseline and every two years. After reviewing 21 publications from the SUN cohort on the effects of the MedDiet, we conclude that this cohort has provided good evidence that a high MedDiet adherence is associated with a reduced incidence of all-cause mortality, fatal and non-fatal major cardiovascular disease (CVD), type 2 diabetes, weight gain, metabolic syndrome, depression, cognitive decline, and nephrolithiasis. An inverse dose-response relationship was found for many of these associations. The MedDiet was also associated with lower average heart rate, a mitigation of the harmful effects of overweight/obesity on the risk of CVD, and an attenuation of the effects of obesity on type 2 diabetes. A suggestion that the MedDiet may enhance fertility was also found. PMID:29614726

Massive retroperitoneal haemorrhage after extracorporeal shock wave lithotripsy (ESWL).

PubMed

Inoue, Hiromasa; Kamphausen, Thomas; Bajanowski, Thomas; Trübner, Kurt

2011-01-01

A 76-year-old male suffering from nephrolithiasis developed a shock syndrome 5 days after extracorporal shock wave lithotripsy (ESWL). CT scan of the abdomen showed massive haemorrhage around the right kidney. Although nephrectomy was performed immediately, the haemorrhage could not be controlled. Numerous units of erythrocytes were transfused, but the patient died. The autopsy revealed massive retroperitoneal haemorrhage around the right kidney. The kidney showed a subcapsular haematoma and a rupture of the capsule. The right renal artery was dissected. The inferior vena cava was lacerated. Accordingly, a hemorrhagic shock as the cause of death was determined, which might mainly have resulted from the laceration of the inferior vena cava due to ESWL. ESWL seems to be a relatively non-invasive modality, but one of its severe complications is perirenal hematoma. The injuries of the blood vessels might have been caused by excessive shock waves. Subsequently, anticoagulation therapy had been resumed 3 days after EWSL, which might have triggered the haemorrhage. Physicians should note that a haemorrhage after an ESWL can occur and they should pay attention to the postoperative management in aged individuals especially when they are under anticoagulation therapy.

[Analysis of the Cochrane Review: Vitamin D supplementation for prevention of cancer in adults. Cochrane Database Syst Rev. 2014, 6:CD007469].

PubMed

Cardoso, André Torres; Nanji, Liliana; Costa, João; Vaz-Carneiro, António

2014-01-01

Vitamin D has been mentioned in the literature has a potentially important agent for preventing the development of tumors, namely breast, colon, prostate and ovary tumors. However, the currently available evidence on the subject is contradictory and inconclusive. In this Cochrane systematic review, patients taking supplemental vitamin D on its various forms (cholecalciferol, ergocalciferol, alfacalcidol or calcitriol), regardless the dose, duration and route of administration, were compared with placebo, healthy adults without any intervention or adults with a disease in a stable phase, non-related with vitamin D metabolism. The results showed that currently, there is no firm evidence that vitamin D supplementation increases or decreases the risk of cancer occurrence, mainly in elderly community-dwelling women. Though at risk of type I errors due to small samples and substantial dropout of participants during the trials, the administration of supplemental cholecalciferol led to a 12% (CI 95%: 2 a 22%) decreased in cancer mortality, while the administration of supplemental vitamin D decreased all-cause mortality by 7% (CI 95%: 2 a 12%). The combined administration of supplements of cholecalciferol and calcium induced an increased incidence of nephrolithiasis.

Sir William Osler's perceptions of urolithiasis and the case of the indigo calculus.

PubMed

Moran, Michael E; Das, Sakti; Rosenberg, Stuart A

2005-12-01

Sir William Osler published his textbook, The Principles and Practice of Medicine, in 1892. It became the definitive treatise on a wide variety of diseases. The section on nephrolithiasis clearly presents the etiology, pathology, symptoms, diagnosis, and treatments. What remains a mystery is the mention, under rare forms of human stones, of a type called "indigo." A search of Index Medicus starting from 1909 backward to its inception in 1879 was performed for key words "indigo," "calculus," "renal" or "bladder stones" and "indicanuria." Twelve textbooks of urology published before 1940 were scrutinized for references to indigo calculi. Only two references to indigo were found, both related to its use for treating constipation (1887 and 1891). Of the 12 textbooks, only 4 make passing reference to "indigo stones." They all mention that such calculi are very rare, but direct references to cases are lacking. One textbook references a study of blue stones from Egyptian mummies. It is unlikely that Osler's reference to an indigo calculus was taken lightly during his writing of The Principles and Practice of Medicine. The case of the indigo calculus is fascinating and perhaps enlightening if only for the source of Osler's intrigue.

Renal Transport of Uric Acid: Evolving Concepts and Uncertainties

PubMed Central

Bobulescu, Ion Alexandru; Moe, Orson W.

2013-01-01

In addition to its role as a metabolic waste product, uric acid has been proposed to be an important molecule with multiple functions in human physiology and pathophysiology and may be linked to human diseases beyond nephrolithiasis and gout. Uric acid homeostasis is determined by the balance between production, intestinal secretion, and renal excretion. The kidney is an important regulator of circulating uric acid levels, by reabsorbing around 90% of filtered urate, while being responsible for 60–70% of total body uric acid excretion. Defective renal handling of urate is a frequent pathophysiologic factor underpinning hyperuricemia and gout. In spite of tremendous advances over the past decade, the molecular mechanisms of renal urate transport are still incompletely understood. Many transport proteins are candidate participants in urate handling, with URAT1 and GLUT9 being the best characterized to date. Understanding these transporters is increasingly important for the practicing clinician as new research unveils their physiology, importance in drug action, and genetic association with uric acid levels in human populations. The future may see the introduction of new drugs that specifically act on individual renal urate transporters for the treatment of hyperuricemia and gout. PMID:23089270

Risk of calcium oxalate nephrolithiasis in postmenopausal women supplemented with calcium or combined calcium and estrogen.

PubMed

Domrongkitchaiporn, Somnuek; Ongphiphadhanakul, Boonsong; Stitchantrakul, Wasana; Chansirikarn, Sirinthorn; Puavilai, Gobchai; Rajatanavin, Rajata

2002-02-26

Recent studies showed that postmenopausal women lost less bone mass when supplemented with calcium or estrogen therapy. However, the safety of the treatments in terms of the risk of calcium oxalate stone formation is unknown. We therefore conducted this study to determine the alteration in calcium oxalate supersaturation after calcium supplement or after combined calcium and estrogen therapy in postmenopausal osteoporotic women. Fifty-six postmenopausal women were enrolled in this study. All subjects were more than 10 years postmenopausal with vertebral or femoral osteoporosis by bone mineral density criteria. They were randomly allocated to receive either 625 mg of calcium carbonate (250 mg of elemental calcium) at the end of a meal three times a day (group A, n=26) or calcium carbonate in the same manner plus 0.625 mg/day of conjugated equine estrogen and 5 mg medrogestone acetate from day 1-12 each month (group B, n=30). The age (mean +/- S.E.M.) was 66.3 +/- 1.2 and 65.1 +/- 1.1 years, weight 54.1 +/- 1.2 and 55.3 +/- 2.1 kg, in group A and group B, respectively. Urine specimens (24-h) were collected at baseline and 3 months after treatment for the determination of calcium oxalate saturation by using Tiselius's index (AP(CaOx)) and calcium/citrate ratio. After 3 months of treatment, there was no significant alteration from baseline for urinary excretion of calcium, citrate and oxalate. Urinary phosphate excretion was significantly reduced (6.3 +/- 0.7 vs. 5.1 +/- 0.7 mmol/day for group A and 8.2 +/- 0.9 vs. 5.8 +/- 0.7 mmol/day for group B, P<0.05), whereas net alkaline absorption was significantly elevated (10.1 +/- 3.6 vs. 20.1 +/- 4.4 meq/day for group A and 4.8 +/- 3.2 vs. 19.9 +/- 3.6 meq/day for group B, P<0.05). Calcium/citrate ratio and AP(CaOx) determined at baseline were not different from the corresponding values after treatment in both groups; calcium/citrate: 10.1 +/- 3.1 vs. 10.1 +/- 2.5 for group A and 9.3 +/- 1.8 vs. 11.9 +/- 2.5 for group B and AP(CaOx): 1.1 +/- 0.1 vs. 1.3 +/- 0.2 for group A and 1.2 +/- 0.2 vs. 1.1 +/- 0.1 for group B. There were eight and nine patients with high AP(CaOx), or >2, at baseline and after treatment, respectively. Calcium supplement with a meal or combined calcium supplement and estrogen therapy is not associated with a significant increased risk of calcium oxalate stone formation in the majority of postmenopausal osteoporotic patients. Determination of urinary saturation for calcium oxalate after calcium and estrogen supplements, especially at the initial phase of treatment, may be helpful in the avoidance of nephrolithiasis.

Sulfasalazine-Induced Crystalluria Causing Severe Acute Kidney Injury.

PubMed

Durando, Michael; Tiu, Hannah; Kim, James Soo

2017-12-01

Sulfasalazine is an anti-inflammatory agent commonly used in the treatment of autoimmune conditions such as inflammatory bowel disease and rheumatoid arthritis. Sulfasalazine is converted by gut bacteria into sulfapyridine and the clinically active metabolite 5-aminosalicylic acid (5-ASA), and its efficacy is proportional to the 5-ASA concentration within the intestinal lumen. Renal complications are commonly reported for the chemically similar 5-ASA derivative mesalamine, but are not well-known side effects of sulfasalazine therapy. We report a 72-year-old patient with Crohn's disease managed with sulfasalazine for more than 10 years who presented with severe acute kidney injury (serum creatinine, 9.7mg/dL). Renal ultrasound revealed calculi and he subsequently spontaneously voided innumerable stones, which were composed of sulfasalazine metabolites. His renal calculi cleared and serum creatinine concentration improved to 3.1mg/dL after discontinuing sulfasalazine therapy and intravenous fluid hydration. His kidney function eventually returned to baseline. This case demonstrates that renal complications, in particular nephrolithiasis, may be an under-reported but potentially serious phenomenon in patients with inflammatory bowel disease treated with sulfasalazine and that their hydration status may play an important role in this process. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

Nephrolithiasis and hematuria--sometimes a stony road to diagnosis.

PubMed

Sellin, L; Quack, I; Weiner, S M; Waldherr, R; Henning, B; Hofebauer, S; Rump, L C

2005-08-01

We report a case of a young man with a history of kidney stones. Occurrence of gross hematuria several months after the extracorporeal shock wave, lithotripsy (ESWL) treatment lead to hospitalization. By ultrasound and abdominal CT scan, the urologist could exclude post-renal causes of the gross hematuria and acute renal failure. After transfer to a department of nephrology hemodialysis was started, an immediate kidney biopsy was performed and prednisolone was administered on the same day. The kidney biopsy revealed an anti-glomerular basement membrane (GBM) disease. The renal function did not recover and the patient remained on hemodialysis. In the literature it has been hypothesized that ESWL-treated patients are prone to develop anti-GBM disease by liberation of glomerular basement antigen through the ESWL high energy shock waves. An additional hypothesis considering the higher susceptibility for anti-GBM disease among certain HLA-tissue types is discussed with regard to our case. Unfortunately, the prolonged track to diagnosis and delayed immunosuppressive treatment could not prevent poor clinical outcome. Although anti-GBM disease is a rather rare disease, it should be included as a differential diagnosis for hematuria--especially months after ESWL treatment. Otherwise early diagnosis may be missed and as in our patient immunosuppressive treatment will remain unsuccessful to recover renal function.

Pathological findings of slaughtered camels' (Camelus dromedaris) kidneys in Najaf-Abad, Iran.

PubMed

Kojouri, Gholam Ali; Nourani, Hossein; Sadeghian, Sirous; Imani, Hadi; Raisi, Abbas

2014-01-01

The kidney of camel is known to play a vital role in water conservation through the production of highly concentrated urine that may predispose animal to varieties of renal dysfunction. In camels renal disorders have received lesser attention in comparison with other animals, thus there is shortage of information in this area. The present study was conducted on 100 slaughtered camels (Camelus dromedaris) (200 kidneys) in Najaf-Abad district (Iran) to evaluate the frequency and types of renal disorders. Results demonstrated varieties of gross abnormalities in 14.00% of kidneys that out of them, 9.00% were confirmed by microscopic examination. Renal capsular pigmentation, medullary hyperemia, subcapsular calcification, cortical and medullar discoloration, hemorrhage in renal pelvis, nephrolithiasis and hydatidosis were recorded in 3, 6, 5, 6, 3, 2 and 3 cases, respectively. In addition, capsular melanosis, acute tubular necrosis, chronic interstitial nephritis, caseous necrosis, calcification, medullary hyperemia, and hydatid cyst were confirmed by histopathological examination in 3, 5, 1, 3, 2, 2, and 2 cases, respectively. Our findings indicate the presence of many types of renal disorders which may relate to dehydration, bacteremia or nephrotoxicosis. In addition capsular melanosis in male camel was recorded for the first time and its etiology remains to be addressed.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

PubMed

Bogdanović, Radovan; Draaken, Markus; Toromanović, Alma; Dordević, Maja; Stajić, Natasa; Ludwig, Michael

2010-11-01

Dent disease is an X-linked recessive disorder affecting the proximal tubule and is characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis/nephrolithiasis with a variable number of features of Fanconi syndrome. It is most often associated with mutations in CLCN5, which encodes the endosomal electrogenic chloride/proton exchanger ClC-5. Renal acidification abnormalities are only rarely seen in Dent disease, whereas the hypokalemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism (Bartter-like syndrome) has been reported in only one patient so far. We report on a 5-year-old boy with Dent disease caused by mutation in CLCN5 gene, c.1073G>A, who presented with hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism persisting over the entire follow-up. No mutations were found in NKCC2, ROMK, NCCT, or ClC-Kb genes. In addition, the patient exhibited growth failure associated with partial growth hormone (GH) deficiency. Coexistence of Bartter-like syndrome features with LMWP should prompt a clinician to search for Dent disease. The Bartter syndrome phenotype seen in Dent disease patients may represent a distinct form of Bartter syndrome, the exact mechanism of which has yet to be fully elucidated. Growth delay that persists in spite of appropriate therapy should raise suspicion of other causes, such as GH deficiency.

A review of dietary supplement-induced renal dysfunction.

PubMed

Gabardi, Steven; Munz, Kristin; Ulbricht, Catherine

2007-07-01

Complementary and alternative medicine (CAM) is a multibillion-dollar industry. Almost half of the American population uses some form of CAM, with many using them in addition to prescription medications. Most patients fail to inform their health care providers of their CAM use, and physicians rarely inquire. Annually, thousands of dietary supplement-induced adverse events are reported to Poison Control Centers nationwide. CAM manufacturers are not responsible for proving safety and efficacy, because the Food and Drug Administration does not regulate them. However, concern exists surrounding the safety of CAM. A literature search using MEDLINE and EMBASE was undertaken to explore the impact of CAM on renal function. English-language studies and case reports were selected for inclusion but were limited to those that consisted of human subjects, both adult and pediatric. This review provides details on dietary supplements that have been associated with renal dysfunction and focuses on 17 dietary supplements that have been associated with direct renal injury, CAM-induced immune-mediated nephrotoxicity, nephrolithiasis, rhabdomyolysis with acute renal injury, and hepatorenal syndrome. It is concluded that it is imperative that use of dietary supplements be monitored closely in all patients. Health care practitioners must take an active role in identifying patients who are using CAM and provide appropriate patient education.

Whey versus soy protein diets and renal status in rats.

PubMed

Aparicio, Virginia A; Nebot, Elena; Tassi, Mohamed; Camiletti-Moirón, Daniel; Sanchez-Gonzalez, Cristina; Porres, Jesús M; Aranda, Pilar

2014-09-01

Different dietary protein sources can promote different renal statuses. We examined the effects of whey protein (WP) and soy protein (SP) intake on plasma, urinary, and morphological renal parameters in rats. One hundred and twenty Wistar rats were randomly distributed into 2 experimental groups fed with either WP or SP diets over 12 weeks. These diets were based on commercial WP or SP isolates. The urinary calcium content was higher in the WP diet compared to the SP diet group (P<.001) whereas the urinary citrate level was lower (P<.001). The urinary pH was more acidic in the WP diet group compared to the SP diet group (P<.001); however, no differences were observed between the groups for any of the renal morphological parameters analyzed (all, P>.05) or other plasma renal markers such as albumin or urea concentrations. The increase of acid and urinary calcium and the lower urinary citrate level observed in the WP diet group could increase the incidence of nephrolithiasis compared to the SP diet group. Despite the WP showed poorer acid-base profile, no significant morphological renal changes were observed. These results suggest that the use of SP instead of WP appears to promote a more alkaline plasma and urinary profile, with their consequent renal advantages.

Review of the pathophysiological aspects involved in urological disease associated with metabolic syndrome.

PubMed

Sáenz Medina, J; Carballido Rodríguez, J

2016-06-01

Metabolic syndrome is a constellation of disorders that includes insulin resistance, central obesity, arterial hypertension and hyperlipidaemia. These disorders can have implications for the genitourinary apparatus. To conduct a review on the pathophysiological aspects that explain the relationship between metabolic syndrome and sexual dysfunction, lower urinary tract syndrome, prostate cancer and stone disease. We performed a qualitative, narrative literature review through a literature search on PubMed of articles published between 1997 and 2015, using the terms pathophysiology, metabolic syndrome, endothelial dysfunction, lipotoxicity, mitochondrial dysfunction, kidney stones, hypogonadism, erectile dysfunction, lower urinary tract syndrome and prostate cancer. Metabolic syndrome constitutes an established complex of symptoms, defined as the presence of insulin resistance, central obesity, hypertension and hyperlipidaemia. Endothelial dysfunction secondary to lipotoxicity generates an inflammatory state, which involves renal cell metabolism, vascularisation of the pelvis and androgen production. These facts explain the relationship between metabolic syndrome, nephrolithiasis, lower urinary tract syndrome, hypogonadism and erectile dysfunction in men. Strategies such as proper diet, regular exercise, insulin treatment, testosterone-replacement therapy, therapy with antioxidants and free-radical inhibitors and urological treatments classically used for lower urinary tract syndrome have shown promising results in this syndrome. Copyright © 2015 AEU. Publicado por Elsevier España, S.L.U. All rights reserved.

High-protein weight-loss diets: are they safe and do they work? A review of the experimental and epidemiologic data.

PubMed

Eisenstein, Julie; Roberts, Susan B; Dallal, Gerard; Saltzman, Edward

2002-07-01

Recommendations for increased consumption of protein are among the most common approaches of popular or fad diets. This review summarizes the effects of dietary protein on satiety, energy intake, thermogenesis, and weight loss, as well as its effect on a variety of health outcomes in adults. In short-term studies, dietary protein modulates energy intake via the sensation of satiety and increases total energy expenditure by increasing the thermic effect of feeding. Whereas these effects did not contribute to weight and fat loss in those studies in which energy intake was fixed, one ad libitum study does suggest that a high-protein diet results in a greater decrease in energy intake, and therefore greater weight and fat loss. In terms of safety, there is little long-term information on the health effects of high-protein diets. From the available data, however, it is evident that the consumption of protein greater than two to three times the U.S. Recommended Daily Allowance contributes to urinary calcium loss and may, in the long term, predispose to bone loss. Caution with these diets is recommended in those individuals who may be predisposed to nephrolithiasis or kidney disease, and particularly in those with diabetes mellitus.

Effects of Polyphenols from Grape Seeds on Renal Lithiasis

PubMed Central

Grases, Felix; Prieto, Rafel M.; Fernandez-Cabot, Rafel A.; Costa-Bauzá, Antonia; Tur, Fernando; Torres, Jose Juan

2015-01-01

Nephrolithiasis is a complex disease that results from a combination of factors related to both urine composition and kidney morphoanatomy. Development of calcium oxalate monohydrate papillary calculi is linked to initial subepithelial calcification of renal papilla. Progressive tissue calcification depends on preexisting injury and involves reactive oxygen species. Many plant extracts that protect against oxidative stress manifest antilithiasic activity. Our study focused on determining the effects of polyphenols on a lithiasis rat model. Rats were pretreated with polyphenols and grape seed extracts, followed by posterior induction of hyperoxalosis via treatment with ethylene glycol plus NH4Cl. The concentrations of calcium and other elements in kidney were determined, along with histological examination of kidney and 24 h urine analysis. Significant differences were observed in the renal calcium content between the control plus ethylene glycol-treated group and the epicatechin plus ethylene glycol-treated, red grape seed extract plus ethylene glycol-treated, and white grape seed extract plus ethylene glycol-treated groups, with reductions of about 50%. The antioxidant activity of polyphenols extracted from red and white grape seeds may be critical in the prevention of calcium oxalate monohydrate papillary calculus formation, particularly if calculi are induced by lesions caused by cytotoxic compounds with oxidative capacity. PMID:25883748

Idiopathic hypercalciuria with bilateral macular colobomata: a new variant of oculo-renal syndrome.

PubMed

Meier, W; Blumberg, A; Imahorn, W; De Luca, F; Wildberger, H; Oetliker, O

1979-01-01

Two siblings from a consanguineous family, suffering from nephrocalcinosis and nephrolithiasis caused by idiopathic hypercalciuria are described. The condition is associated with bilateral macular colobomata and tapeto-retinal degeneration. It is known that the latter can occur together with different nephropathies; however, until now it has never been described in combination with idiopathic hypercalciuria. Blood calcium levels were found to be normal, calcium excretion rates were, with one exception, more than 6 mg/kg/24 h corrected for 100 ml GFR. Hypomagnesemia of 1.5 and 1.2 mg/dl and hyermagnesuria of 1.9 and 2.5 mg/kg/24 h corrected for 100 ml GFR were found in both patients. Tubular phosphate reabsorption reached 87% and 84% at serum parathormone levels of 0.34 microgram/l and 0.31 microgram/l in the two patients, respectively. Under calcium and magnesium loading the clearance rates of calcium and magnesium were raised whilst there was only a small insignificant increase in the blood levels of these cations. Acid-base titrations showed normal excretion rates of acid and base in one patient and a mild proximal tubular acidosis in the other. Quantitative investigation of the renal concentrating and diluting capacity established a decrease in the formation of the medullary concentrating gradient in both patients.

Efficacy of Mixtures of Magnesium, Citrate and Phytate as Calcium Oxalate Crystallization Inhibitors in Urine.

PubMed

Grases, Felix; Rodriguez, Adrian; Costa-Bauza, Antonia

2015-09-01

The main aim of the current study was to evaluate the effectiveness of mixtures of magnesium, citrate and phytate as calcium oxalate crystallization inhibitors. A turbidimetric assay in synthetic urine was performed to obtain induction times for calcium oxalate crystallization in the absence and presence of different mixtures of inhibitors. The morphology of calcium oxalate crystals in the absence or presence of inhibitors and mixtures of the inhibitors was evaluated in 2 crystallization experiments at low and high calcium oxalate supersaturation. The crystals formed were examined using scanning electron microscopy. Examination of crystallization induction times revealed clear inhibitory effects of magnesium, citrate and phytate on calcium oxalate crystallization, supporting usefulness in the treatment and prevention of calcium oxalate nephrolithiasis. Significant synergistic effects between magnesium and phytate were observed. Scanning electron microscopy images revealed that phytate is a powerful crystal growth inhibitor of calcium oxalate, totally preventing the formation of trihydrate and monohydrate. In addition to crystallization inhibition capacity, citrate and magnesium avoided calcium oxalate crystallization by decreasing its supersaturation. The synergistic effect between magnesium and phytate on calcium oxalate crystallization suggests that a combination of these 2 compounds may be highly useful as antilithiasis therapy. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

eFAST for the diagnosis of a perioperative complication during percutaneous nephrolithotomy.

PubMed

Sharma, Achyut; Bhattarai, Prajjwal; Sharma, Apurb

2018-04-03

A 29-year-old patient with normal preanesthetic evaluation was planned for percutaneous nephrolithotomy (PCNL) for right nephrolithiasis with right pyelolithiasis. Surgery was performed under general anesthesia with endotracheal intubation with muscle relaxation. At the conclusion of surgery, when the patient was turned over to supine position, tense abdomen was noted. Immediately extended focused assessment with sonography in trauma (eFAST) was done in which both right and left quadrants of abdomen including pericardial and suprapubic region, right and left thoracic, and both lung basis were examined. Fluid collection was seen in Morison's pouch which was drained by the urologist under real-time ultrasonography guidance by anesthesiologist. Distension of abdomen subsequently subsided and patient had normal vitals. Trachea was extubated and patient shifted to post-operative ward. eFAST and FAST scans are routine procedures in the rapid assessment of trauma victims in emergency settings. The fluid extravasation during a routine PCNL procedure may lead to abdominal compartment syndrome. This case demonstrated that use of eFAST rapidly detected abdominal collection and ruled out life-threatening conditions such as hemothorax and pneumothorax and prevented abdominal compartment syndrome. Our case is only an example that potentially lethal conditions like these may be encountered in the perioperative setting and the knowledge of eFAST scan may be of great help.

[Efficacy and tolerability of long term topiramate in drug resistant epilepsy in adults].

PubMed

Ribacoba Montero, R; Salas Puig, X

With the objective of evaluating the efficacy and tolerability of topiramate (TPM) in resistant epilepsy, we did a retrospective, open, multicentric analysis of 56 patients aged over 15 years in whom TPM was given as the second, third or fourth drug. All patients had already been on treatment for at least 18 months when topiramate was started. The average follow up was 27.2 months. At the close of the study 16% of the patients were asymptomatic, 23% had a 75% reduction in seizures and 36% a 50% reduction. The drug was withdrawn in 25% of the cases. The adverse effects noted were: nephrolithiasis, asthenia, loss of hair, diarrhoea, weight loss of over 5kg., agitation, aggressiveness, language disorders, ataxia, tremor, somnolence and confusion. The drug had to be suspended when these adverse effects affected the central nervous system moderately or severely, and when there were general effects such as renal calculi in one case and weight loss associated with symptoms which worried the patients in two cases. Thus, TPM is an effective drug in refractory epilepsy and most patients continue on this treatment. The side effects are typical of the drug, and although there is no risk to life, the patient should be warned of them.

Hypercalciuric Bone Disease

NASA Astrophysics Data System (ADS)

Favus, Murray J.

2008-09-01

Hypercalciuria plays an important causal role in many patients with calcium oxalate (CaOx) stones. The source of the hypercalciuria includes increased intestinal Ca absorption and decreased renal tubule Ca reabsorption. In CaOx stone formers with idiopathic hypercalciuria (IH), Ca metabolic balance studies have revealed negative Ca balance and persistent hypercalciuria in the fasting state and during low dietary Ca intake. Bone resorption may also contribute to the high urine Ca excretion and increase the risk of bone loss. Indeed, low bone mass by DEXA scanning has been discovered in many IH patients. Thiazide diuretic agents reduce urine Ca excretion and may increase bone mineral density (BMD), thereby reducing fracture risk. Dietary Ca restriction that has been used unsuccessfully in the treatment of CaOx nephrolithiasis in the past may enhance negative Ca balance and accelerate bone loss. DEXA scans may demonstrate low BMD at the spine, hip, or forearm, with no predictable pattern. The unique pattern of bone histologic changes in IH differs from other causes of low DEXA bone density including postmenopausal osteoporosis, male hypogonadal osteoporosis, and glucocorticoid-induced osteoporosis. Hypercalciuria appears to play an important pathologic role in the development of low bone mass, and therefore correction of urine Ca losses should be a primary target for treatment of the bone disease accompanying IH.

Evaluation of Renal Function after Percutaneous Nephrolithotomy-Does the Number of Percutaneous Access Tracts Matter?

PubMed

Gorbachinsky, Ilya; Wood, Kyle; Colaco, Marc; Hemal, Sij; Mettu, Jayadev; Mirzazadeh, Majid; Assimos, Dean G; Gutierrez-Aćeves, Jorge

2016-07-01

Renal function following percutaneous nephrolithotomy has long been a concern to urologists, especially in the setting of multi-tract access. We determined whether the risk of renal injury after multi-tract percutaneous nephrolithotomy was greater than after a single access approach. We retrospectively reviewed the records of 307 consecutive patients treated with percutaneous nephrolithotomy from 2011 to 2012 at Wake Forest Health. Perioperative (99m)Tc-mercaptoacetyltriglycine nuclear renogram parameters along with serum creatinine values were assessed within 1 year of the procedure. Patients were stratified by single access vs multi-access (2 or more). We identified 110 cases in which renography was done before and after percutaneous nephrolithotomy. A total of 74 patients (67.3%) underwent single access percutaneous nephrolithotomy while 36 (32.7%) underwent multi-access percutaneous nephrolithotomy. Serum creatinine did not significantly differ between the 2 cohorts postoperatively (p = 0.09). There was a significant 2.28% decrease in renal function based on mercaptoacetyltriglycine nuclear renogram results after percutaneous nephrolithotomy of the affected kidney in patients with multiple accesses (p <0.01). This relationship was not observed when patients were stratified by multiple comorbidities associated with nephrolithiasis. Multi-access percutaneous nephrolithotomy is associated with a small reduction in the function of the targeted kidney compared to a single access approach. Copyright © 2016 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Nutrition and renal stone disease in space

NASA Technical Reports Server (NTRS)

Zerwekh, Joseph E.

2002-01-01

There is a growing body of evidence from the National Aeronautics and Space Administration and the Russian space program showing that humans exposed to the microgravity environment of space have a greater risk for developing renal stones. Increased bone resorption and the attendant hypercalciuria and hyperphosphaturia contribute significantly to raising the urinary state of saturation with respect to the calcium salts, namely calcium oxalate and calcium phosphate. In addition, other environmental and dietary factors may adversely affect urine composition and increase stone formation risk during space flight. For example, reductions in urinary volume, pH, and citrate contribute to raising stone formation risk. In addition to raising the risk for calcium stone formation, this metabolic profile is conducive to the formation of uric acid stones. Although observations to date have suggested that there may actually be a reduced food intake during the early phase of flight, crew members on longer-duration flights may increase food intake and be at increased risk for stone formation. Taken together, these findings support the use of nutritional recommendations for crew members that would serve to reduce the stone-forming propensity of the urinary environment. Pharmacologic intervention should be directed at raising urinary volumes, diminishing bone losses, and preventing reductions in urinary pH and citrate. Success in reducing the risk for stone formation in astronauts would also be of potential major benefit to the estimated 20 million Americans with nephrolithiasis.

Infrared vibrational spectroscopy: a rapid and novel diagnostic and monitoring tool for cystinuria

PubMed Central

Oliver, Katherine V.; Vilasi, Annalisa; Maréchal, Amandine; Moochhala, Shabbir H.; Unwin, Robert J.; Rich, Peter R.

2016-01-01

Cystinuria is the commonest inherited cause of nephrolithiasis (~1% in adults; ~6% in children) and is the result of impaired cystine reabsorption in the renal proximal tubule. Cystine is poorly soluble in urine with a solubility of ~1 mM and can readily form microcrystals that lead to cystine stone formation, especially at low urine pH. Diagnosis of cystinuria is made typically by ion-exchange chromatography (IEC) detection and quantitation, which is slow, laboursome and costly. More rapid and frequent monitoring of urinary cystine concentration would significantly improve the diagnosis and clinical management of cystinuria. We used attenuated total reflection - Fourier transform infrared spectroscopy (ATR-FTIR) to detect and quantitate insoluble cystine in 22 cystinuric and 5 healthy control urine samples. Creatinine concentration was also determined by ATR-FTIR to adjust for urinary concentration/dilution. Urine was centrifuged, the insoluble fraction re-suspended in 5 μL water and dried on the ATR prism. Cystine was quantitated using its 1296 cm−1 absorption band and levels matched with parallel measurements made using IEC. ATR-FTIR afforded a rapid and inexpensive method of detecting and quantitating insoluble urinary cystine. This proof-of-concept study provides a basis for developing a high-throughput, cost-effective diagnostic method for cystinuria, and for point-of-care clinical monitoring PMID:27721432

Calcium Tartrate Tetrahydrate, Case Report of a Novel Human Kidney Stone.

PubMed

Kleinguetl, Colin; Williams, James C; Ibrahim, Samar A; Daudon, Michel; Bird, Erin T; El Tayeb, Marawan M

2017-01-01

Background: Calcium tartrate tetrahydrate has been reported as the main mineral in urinary stones in rats that have significant tartrate in their diet, but in humans, there has been only one mention of calcium tartrate stones in the form of bladder stone, and that case was in Africa. Case Presentation: Patient is a 34-year-old Caucasian male who presented with typical symptoms of nephrolithiasis. CT abd/pelvis (renal stone protocol) revealed a 2 cm nonobstructing stone of the right renal pelvis. Patient underwent an uncomplicated right percutaneous nephrolithotomy and was noted to be stone free after surgery. Stone analysis was difficult with regard to determining composition, but was finally identified as calcium tartrate tetrahydrate. Conclusion: This was an unusual case, as this is the first recorded case of a calcium tartrate tetrahydrate outside of Africa. This type of stone had only been mainly described in rat models with dl- bitartrate in their diet. Our patient was an otherwise healthy, relatively muscular individual with no obvious source for this stone other than a vitamin and amino acid supplement that he takes regularly that contains l-carnitine (as tartrate) and choline (as bitartrate and citrate). The prevalence of this stone type is presently unknown, as stone analysis laboratories have not had the ability to recognize it. Although a connection between the supplement and stone formation is conjecture at this time, we believe this necessitates further investigation.

Renal involvement in leprosy: evaluation of patients in Turkey

PubMed Central

Ozturk, Tulin; Can, Ilkay

2017-01-01

Introduction Renal involvement in leprosy has previously been described in the literature and can include amyloidosis, glomerulonephritis, nephrosclerosis, tubulointerstitial nephritis, and granulomas. Aim To evaluate renal involvement in Turkish patients with leprosy. Material and methods In total, 32 patients with lepromatous leprosy but without any co-morbidities and 35 healthy control subjects were evaluated for renal involvement at the Elazig Training and Research Hospital in Turkey. The laboratory tests and radiological results concerning renal function were taken from both the patients’ medical records and from current examinations. Results The levels of creatinine, urea, and leukocyturia in the lepromatous leprosy patients were significantly higher than in the controls (p < 0.001, p < 0.001; p = 0.001, p < 0.01; p = 0.036, p < 0.05, respectively). No significant differences in the proteinuria, hematuria, sodium, or potassium levels were found between the leprosy and control groups (p > 0.05). On ultrasonographic examination, the prevalence of renal cortical cysts and renal cortical echogenicity in the leprosy patients was significantly higher than in the controls (p = 0.020, p < 0.05, respectively). There were no significant differences in terms of nephrolithiasis, parapelvic cysts, or hydronephrosis between the leprosy and control groups (p > 0.05). Conclusions Evaluating the renal function in all leprosy patients is important to detect abnormalities and to prevent renal failure, which remains a potential cause of death in this disease. PMID:28670253

Renal involvement in leprosy: evaluation of patients in Turkey.

PubMed

Ozturk, Savas; Ozturk, Tulin; Can, Ilkay

2017-06-01

Renal involvement in leprosy has previously been described in the literature and can include amyloidosis, glomerulonephritis, nephrosclerosis, tubulointerstitial nephritis, and granulomas. To evaluate renal involvement in Turkish patients with leprosy. In total, 32 patients with lepromatous leprosy but without any co-morbidities and 35 healthy control subjects were evaluated for renal involvement at the Elazig Training and Research Hospital in Turkey. The laboratory tests and radiological results concerning renal function were taken from both the patients' medical records and from current examinations. The levels of creatinine, urea, and leukocyturia in the lepromatous leprosy patients were significantly higher than in the controls ( p < 0.001, p < 0.001; p = 0.001, p < 0.01; p = 0.036, p < 0.05, respectively). No significant differences in the proteinuria, hematuria, sodium, or potassium levels were found between the leprosy and control groups ( p > 0.05). On ultrasonographic examination, the prevalence of renal cortical cysts and renal cortical echogenicity in the leprosy patients was significantly higher than in the controls ( p = 0.020, p < 0.05, respectively). There were no significant differences in terms of nephrolithiasis, parapelvic cysts, or hydronephrosis between the leprosy and control groups ( p > 0.05). Evaluating the renal function in all leprosy patients is important to detect abnormalities and to prevent renal failure, which remains a potential cause of death in this disease.

Achieving the Benefits of a High-Potassium, Paleolithic Diet, Without the Toxicity.

PubMed

Palmer, Biff F; Clegg, Deborah J

2016-04-01

The average US dietary intake of K(+) is well below the current recommended nutritional requirements. This deficiency is even more striking when comparing our current intake with that of our ancestors, who consumed large amounts of dietary K(+). K(+) deficiency has been implicated in many diseases including cardiovascular disease, kidney stones, and osteoporosis. Importantly, dietary supplementation of K(+) has favorable effects on reducing blood pressure, decreasing the risk of stroke, improving bone health, and reducing the risk of nephrolithiasis. For this comprehensive review, we scanned the literature using PubMed and MEDLINE using the following search terms: potassium intake, renal potassium excretion, and prevention of hyperkalemia. Articles were selected for inclusion if they represented primary data or review articles published between 1980 and 2015 in high-impact journals. The normal kidney has the capacity to tightly regulate K(+) homoeostasis. We discuss new findings with respect to sensing mechanisms by which the kidney maintains K(+) homeostasis in the gastrointestinal tract and distal tubule. There are widely prescribed hypertensive medications that cause hyperkalemia and thus require dietary K(+) restriction. We conclude by discussing newly approved drugs capable of binding K(+) in the gastrointestinal tract and speculate that this new pharmacology might allow diet liberalization in patients at risk for hyperkalemia, affording them the numerous benefits of a K(+)-rich diet. Copyright © 2016 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

Incidence of kidney stones with topiramate treatment in pediatric patients.

PubMed

Mahmoud, Adel A H; Rizk, Tamer; El-Bakri, Nahid K; Riaz, Muhammad; Dannawi, Samer; Al Tannir, Mohamad

2011-10-01

We ran this study to assess the incidence of nephrolithiasis in a group of children on topiramate (TPM) therapy for at least 1 year. In this retrospective observational surveillance study, we reviewed the medical charts of children on TPM for at least 1 year seen at the pediatric neurology department during the period from 2005 to 2010 at King Fahad Medical City. Children with a normal baseline ultrasound report were included. Follow-up ultrasound reports after at least 1 year were collected. However, patients with any evidence of chronic illness or medications that may affect the kidney functions in addition to those who are not compliant with the prescribed dose were excluded. Family history of renal stones, symptoms suggestive of urologic disorders, and comorbidities were recorded. Medical charts of 96 children on TPM with a mean age of 6.9 (±3.8) years were reviewed; 52 (54.2%) of the children were male. The follow-up ultrasound showed that five children (5.2%) had developed kidney stones. The occurrence of kidney stones was found in four female patients (80%) versus one male (20%) (p > 0.05). Long-term use of TPM may result in increased incidence of asymptomatic kidney stones in the pediatric population. Hence, routine baseline and follow-up ultrasound of the urinary system should be recommended during the use of TPM in children. Wiley Periodicals, Inc. © 2011 International League Against Epilepsy.

Kidney stones: Composition, frequency and relation to metabolic diagnosis.

PubMed

Spivacow, Francisco R; Del Valle, Elisa E; Lores, Ernesto; Rey, Paula G

Nephrolithiasis is one of the most frequent urologic diseases. The aim of this paper is to study the composition and frequency of 8854 patient kidney stones and in a subset of them their metabolic risk factors to be related to their type of calculi. Physicochemical and crystallographic methods were used to assess kidney stone composition. In a subset of 715 patients, we performed an ambulatory metabolic protocol with diagnostic purposes. From the total sample 79% of stones were made of calcium salts (oxalate and phosphate), followed by uric acid stones in 16.5%, calcium salts and uric acid in 2%, other salts in 1.9% and cystine in 0.6%. Male to female ratio was almost three times higher in calcium salts and other types of stones, reaching a marked male predominance in uric acid stones, M/F 18.8 /1.0. The major risk factors for calcium stones are idiopathic hypercalciuria, followed by unduly acidic urine pH and hyperuricosuria. In uric acid stones unduly acidic urine pH and less commonly hyperuricosuria are the most frequent biochemical diagnosis. Our results show that analysis of kidney stones composition and the corresponding metabolic diagnosis may provide a scientific basis for the best management and prevention of kidney stone formation, as well as it may help us to study the mechanisms of urine stone formation.

Inflammatory and fibrotic proteins proteomically identified as key protein constituents in urine and stone matrix of patients with kidney calculi.

PubMed

Boonla, Chanchai; Tosukhowong, Piyaratana; Spittau, Björn; Schlosser, Andreas; Pimratana, Chaowat; Krieglstein, Kerstin

2014-02-15

To uncover whether urinary proteins are incorporated into stones, the proteomic profiles of kidney stones and urine collected from the same patients have to be explored. We employed 1D-PAGE and nanoHPLC-ESI-MS/MS to analyze the proteomes of kidney stone matrix (n=16), nephrolithiatic urine (n=14) and healthy urine (n=3). We identified 62, 66 and 22 proteins in stone matrix, nephrolithiatic urine and healthy urine, respectively. Inflammation- and fibrosis-associated proteins were frequently detected in the stone matrix and nephrolithiatic urine. Eighteen proteins were exclusively found in the stone matrix and nephrolithiatic urine, considered as candidate biomarkers for kidney stone formation. S100A8 and fibronectin, representatives of inflammation and fibrosis, respectively, were up-regulated in nephrolithiasis renal tissues. S100A8 was strongly expressed in infiltrated leukocytes. Fibronectin was over-expressed in renal tubular cells. S100A8 and fibronectin were immunologically confirmed to exist in nephrolithiatic urine and stone matrix, but in healthy urine they were undetectable. Conclusion, both kidney stones and urine obtained from the same patients greatly contained inflammatory and fibrotic proteins. S100A8 and fibronectin were up-regulated in stone-baring kidneys and nephrolithiatic urine. Therefore, inflammation and fibrosis are suggested to be involved in the formation of kidney calculi. Copyright © 2013 Elsevier B.V. All rights reserved.

Treatment and prevention of kidney stones: an update.

PubMed

Frassetto, Lynda; Kohlstadt, Ingrid

2011-12-01

The incidence of nephrolithiasis (kidney stones) is rising worldwide, especially in women and with increasing age. Kidney stones are associated with chronic kidney disease. Preventing recurrence is largely specific to the type of stone (e.g., calcium oxalate, calcium phosphate, cystine, struvite [magnesium ammonium phosphate]), and uric acid stones); however, even when the stone cannot be retrieved, urine pH and 24-hour urine assessment provide information about stone-forming factors that can guide prevention. Medications, such as protease inhibitors, antibiotics, and some diuretics, increase the risk of some types of kidney stones, and patients should be counseled about the risks of using these medications. Managing diet, medication use, and nutrient intake can help prevent the formation of kidney stones. Obesity increases the risk of kidney stones. However, weight loss could undermine prevention of kidney stones if associated with a high animal protein intake, laxative abuse, rapid loss of lean tissue, or poor hydration. For prevention of calcium oxalate, cystine, and uric acid stones, urine should be alkalinized by eating a diet high in fruits and vegetables, taking supplemental or prescription citrate, or drinking alkaline mineral waters. For prevention of calcium phosphate and struvite stones, urine should be acidified; cranberry juice or betaine can lower urine pH. Antispasmodic medications, ureteroscopy, and metabolic testing are increasingly being used to augment fluid and pain medications in the acute management of kidney stones.

The diurnal variation in urine acidification differs between normal individuals and uric acid stone formers

PubMed Central

Cameron, Mary Ann; Maalouf, Naim M.; Poindexter, John; Adams-Huet, Beverley; Sakhaee, Khashayar; Moe, Orson W.

2012-01-01

Many biologic functions follow circadian rhythms driven by internal and external cues that synchronize and coordinate organ physiology to diurnal changes in the environment and behavior. Urinary acid-base parameters follow diurnal patterns and it is thought these changes are due to periodic surges in gastric acid secretion. Abnormal urine pH is a risk factor for specific types of nephrolithiasis and uric acid stones are typical of excessively low urine pH. Here we placed 9 healthy volunteers and 10 uric acid stone formers on fixed metabolic diets to study the diurnal pattern of urinary acidification. All showed clear diurnal trends in urinary acidification but none of the patterns were affected by inhibitors of the gastric proton pump. Uric acid stone formers had similar patterns of change through the day but their urine pH was always lower compared to healthy volunteers. Uric acid stone formers excreted more acid (normalized to acid ingestion) with the excess excreted primarily as titratable acid rather than ammonium. Urine base excretion was also lower in uric acid stone formers (normalized to base ingestion) along with lower plasma bicarbonate concentrations during part of the day. Thus, increased net acid presentation to the kidney and the preferential use of buffers, other than ammonium, result in much higher concentrations of un-dissociated uric acid throughout the day and consequently an increased risk of uric acid stones. PMID:22297671

Identification of mineral compositions in some renal calculi by FT Raman and IR spectral analysis

NASA Astrophysics Data System (ADS)

Tonannavar, J.; Deshpande, Gouri; Yenagi, Jayashree; Patil, Siddanagouda B.; Patil, Nikhil A.; Mulimani, B. G.

2016-02-01

We present in this paper accurate and reliable Raman and IR spectral identification of mineral constituents in nine samples of renal calculi (kidney stones) removed from patients suffering from nephrolithiasis. The identified mineral components include Calcium Oxalate Monohydrate (COM, whewellite), Calcium Oxalate Dihydrate (COD, weddellite), Magnesium Ammonium Phosphate Hexahydrate (MAPH, struvite), Calcium Hydrogen Phosphate Dihydrate (CHPD, brushite), Pentacalcium Hydroxy Triphosphate (PCHT, hydroxyapatite) and Uric Acid (UA). The identification is based on a satisfactory assignment of all the observed IR and Raman bands (3500-400 cm- 1) to chemical functional groups of mineral components in the samples, aided by spectral analysis of pure materials of COM, MAPH, CHPD and UA. It is found that the eight samples are composed of COM as the common component, the other mineral species as common components are: MAPH in five samples, PCHT in three samples, COD in three samples, UA in three samples and CHPD in two samples. One sample is wholly composed of UA as a single component; this inference is supported by the good agreement between ab initio density functional theoretical spectra and experimental spectral measurements of both sample and pure material. A combined application of Raman and IR techniques has shown that, where the IR is ambiguous, the Raman analysis can differentiate COD from COM and PCHT from MAPH.

Identification of mineral compositions in some renal calculi by FT Raman and IR spectral analysis.

PubMed

Tonannavar, J; Deshpande, Gouri; Yenagi, Jayashree; Patil, Siddanagouda B; Patil, Nikhil A; Mulimani, B G

2016-02-05

We present in this paper accurate and reliable Raman and IR spectral identification of mineral constituents in nine samples of renal calculi (kidney stones) removed from patients suffering from nephrolithiasis. The identified mineral components include Calcium Oxalate Monohydrate (COM, whewellite), Calcium Oxalate Dihydrate (COD, weddellite), Magnesium Ammonium Phosphate Hexahydrate (MAPH, struvite), Calcium Hydrogen Phosphate Dihydrate (CHPD, brushite), Pentacalcium Hydroxy Triphosphate (PCHT, hydroxyapatite) and Uric Acid (UA). The identification is based on a satisfactory assignment of all the observed IR and Raman bands (3500-400c m(-1)) to chemical functional groups of mineral components in the samples, aided by spectral analysis of pure materials of COM, MAPH, CHPD and UA. It is found that the eight samples are composed of COM as the common component, the other mineral species as common components are: MAPH in five samples, PCHT in three samples, COD in three samples, UA in three samples and CHPD in two samples. One sample is wholly composed of UA as a single component; this inference is supported by the good agreement between ab initio density functional theoretical spectra and experimental spectral measurements of both sample and pure material. A combined application of Raman and IR techniques has shown that, where the IR is ambiguous, the Raman analysis can differentiate COD from COM and PCHT from MAPH. Copyright © 2015 Elsevier B.V. All rights reserved.

Reduced vertebral bone density in hypercalciuric nephrolithiasis

NASA Technical Reports Server (NTRS)

Pietschmann, F.; Breslau, N. A.; Pak, C. Y.

1992-01-01

Dual-energy x-ray absorptiometry and single-photon absorptiometry were used to determine bone density at the lumbar spine and radial shaft in 62 patients with absorptive hypercalciuria, 27 patients with fasting hypercalciuria, and 31 nonhypercalciuric stone formers. Lumbar bone density was significantly lower in patients with absorptive (-10%) as well as in those with fasting hypercalciuria (-12%), with 74 and 92% of patients displaying values below the normal mean, whereas only 48% of the nonhypercalciuric stone formers had bone density values below the normal mean. In contrast, radial bone density was similar in all three groups of renal stone formers investigated. The comparison of urinary chemistry in patients with absorptive hypercalciuria and low normal bone density compared to those with high normal bone density showed a significantly increased 24 h urinary calcium excretion on random diet and a trend toward a higher 24 h urinary uric acid excretion and a higher body mass index in patients with low normal bone density. Moreover, among the patients with absorptive hypercalciuria we found a statistically significant correlation between the spinal bone density and the 24 h sodium and sulfate excretion and the urinary pH. These results gave evidence for an additional role of environmental factors (sodium and animal proteins) in the pathogenesis of bone loss in absorptive hypercalciuria. In conclusion, our data suggest an osteopenia of trabecular-rich bone tissues in patients with fasting and absorptive hypercalciurias.

Effectiveness of Treatment Modalities on Kidney Stone Recurrence.

PubMed

Zisman, Anna L

2017-10-06

Nephrolithiasis is highly prevalent across all demographic groups in the Western world and beyond, and its incidence rates are rising. In addition to the morbidity of the acute event, stone disease often becomes a lifelong problem that requires preventative therapy to diminish ongoing morbidity. Across the majority of stone types, increased fluid intake and targeted dietary modifications are mainstays of therapy. Specific dietary interventions associated with reduced calcium stone risk include adequate dietary calcium intake and restriction of sodium, protein, and oxalate intake, among others. Pharmaceutical therapy may be required if lifestyle changes are insufficient to minimize risk of stone recurrence, and must be targeted to the specific metabolic abnormalities portending risk for a given patient. Therapeutic options for idiopathic calcium stone disease include thiazides, citrate salts, and uric acid-lowering agents. Alkali salts are also the treatment of choice for uric acid stone disease. Management of struvite stone disease is largely surgical, but acetohydroxamic acid is a proven second line therapy. Cystinuria requires lifestyle modifications and may call for thiol-binding agents. Significant heterogeneity of the clinical population with stone disease has previously limited opportunities for large randomized controlled trials. However, as clinical phenotypes and genotypes are increasingly clarified, there are mounting opportunities for targeted randomized controlled trials in stone prevention. In the meantime, the currently available evidence for both lifestyle and pharmacologic interventions is reviewed herein. Copyright © 2017 by the American Society of Nephrology.

Laparoscopic nephrectomy for giant staghorn calculus with non-functioning kidneys: Is associated unsuspected urothelial carcinoma responsible for conversion? Report of 2 cases

PubMed Central

Shah, Hemendra Navinchandra; Jain, Pritesh; Chibber, Percy Jal

2006-01-01

Background- Neglected renal stones remain a major cause of morbidity in developing countries. They not only result in functional impairment of affected kidney, but also act as an important predisposing factor for development of urothelial neoplasms. It is not uncommon to miss an associated urothelial tumor in a patient of nephrolithiasis preoperatively. Case presentation- In last 3 years, we came across two patients with giant staghorn calculus and poorly functioning kidneys who underwent laparoscopic nephrectomy. In view of significant perirenal adhesions & loss of normal tissue planes both these patients were electively converted to open surgery. The pathological examination of specimen revealed an unsuspected urothelial carcinoma in both these patients. The summary of our cases and review of literature is presented. Conclusion- It is important to keep a differential diagnosis of associated urothelial malignancy in mind in patient presenting with long standing renal calculi. The exact role of a computerized tomography and cytology in preoperative workup for detection of possible associated malignancy in such condition is yet to be defined. Similarly if laparoscopic dissection appears difficult during nephrectomy for a renal calculus with non-functional kidney, keeping a possibility of associated urothelial malignancy in mind it is advisable to dissect in a plane outside gerotas fascia as for radical nephrectomy. PMID:16398940

Renal manifestations of primary mitochondrial disorders

PubMed Central

Finsterer, Josef; Scorza, Fulvio

2017-01-01

The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms. Among the syndromic MIDs, renal involvement has been most frequently reported in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome, Kearns-Sayre syndrome, Leigh syndrome and mitochondrial depletion syndromes. Only in single cases was renal involvement also reported in chronic progressive external ophthalmoplegia, Pearson syndrome, Leber's hereditary optic neuropathy, coenzyme-Q deficiency, X-linked sideroblastic anemia and ataxia, myopathy, lactic acidosis, and sideroblastic anemia, pyruvate dehydrogenase deficiency, growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death, and hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis syndrome. The present study proposes that the frequency of renal involvement in MIDs is probably underestimated. Diagnosis of renal involvement follows general guidelines and treatment is symptomatic. Thus, renal manifestations of primary MIDs require recognition and appropriate management, as they determine the outcome of MID patients. PMID:28515908

Prevalence and risk factors for kidney stones in fibrodysplasia ossificans progressiva.

PubMed

Gupta, Rishi R; Delai, Patricia L R; Glaser, David L; Rocke, David M; Al Mukaddam, Mona; Pignolo, Robert J; Kaplan, Frederick S

2018-04-01

The worldwide prevalence and risk factors for kidney stones in patients with fibrodysplasia ossificans progressiva (FOP) are unknown. We conducted a survey of 383 patient-members of the International Fibrodysplasia Ossificans Progressiva Association, comprising the entire global membership of the international FOP community. Two hundred seven patients from 31 nations and 6 continents (54%) responded. Nineteen of 207 respondents had kidney stones, revealing a worldwide prevalence of 9.2%. In a confirmatory follow-up study of subjects participating in a longitudinal FOP natural history study, 9 of 114 individuals reported a history of kidney stones (7.9%). In both study populations patients with kidney stones were found to be more functionally impaired compared to those without nephrolithiasis. The prevalence of kidney stones in the adult FOP population of the Unites States was 15.8% (9/57 individuals) compared to a sex- and age-weighted prevalence of 4.5% (p=4×10 -5 ) in the general population. Although geographical variation exists, patients with FOP have an approximately three-fold greater prevalence of kidney stones than the general population. This unusually high prevalence may be due to high bone turnover from chronic immobilization, or to unknown mechanistic effects of the activating FOP mutation in activin A receptor, type I/activin-like kinase-2 (ACVR1/ALK2), increasing the disease burden and morbidity in this already disabling condition. Copyright © 2017 Elsevier Inc. All rights reserved.

Safety and efficacy of percutaneous nephrolithotomy for the treatment of paediatric urolithiasis

PubMed Central

Veeratterapillay, R; Shaw, MBK; Williams, R; Haslam, P; Lall, A; De la Hunt, M; Hasan, ST; Thomas, DJ

2012-01-01

INTRODUCTION Paediatric percutaneous nephrolithotomy (PCNL) has revolutionised the treatment of paediatric nephrolithiasis. Paediatric PCNL has been performed using both adult and paediatric instruments. Stone clearance rates and complications vary according to the technique used and surgeon experience. We present our experience with PCNL using adult instruments and a 28Fr access tract for large renal calculi in children under 18 years. METHODS All patients undergoing PCNL at our institution between 2000 and 2009 were reviewed. Demographics, surgical details and post-operative follow-up information were obtained to identify stone clearance rates and complications. RESULTS PCNL was performed in 32 renal units in 31 patients (mean age: 10.8 years). The mean stone diameter was 19mm (range: 5–40mm). Twenty-six cases required single puncture and six required multiple tracts. Overall, 11 staghorn stones, 10 multiple calyceal stones and 11 single stones were treated. Twenty-seven patients (84%) were completely stone free following initial PCNL. Two cases had extracorporeal shock wave lithotripsy for residual fragments, giving an overall stone free rate of 91% following treatment. There was no significant bleeding or sepsis encountered either during the operation or in the post-operative setting. No patient required or received a blood transfusion. CONCLUSIONS Paediatric PCNL can be performed safely with minimal morbidity using adult instruments for large stone burden, enabling rapid and complete stone clearance. PMID:23131231

Safety and efficacy of percutaneous nephrolithotomy for the treatment of paediatric urolithiasis.

PubMed

Veeratterapillay, R; Shaw, M B K; Williams, R; Haslam, P; Lall, A; De la Hunt, M; Hasan, S T; Thomas, D J

2012-11-01

Paediatric percutaneous nephrolithotomy (PCNL) has revolutionised the treatment of paediatric nephrolithiasis. Paediatric PCNL has been performed using both adult and paediatric instruments. Stone clearance rates and complications vary according to the technique used and surgeon experience. We present our experience with PCNL using adult instruments and a 28Fr access tract for large renal calculi in children under 18 years. All patients undergoing PCNL at our institution between 2000 and 2009 were reviewed. Demographics, surgical details and post-operative follow-up information were obtained to identify stone clearance rates and complications. PCNL was performed in 32 renal units in 31 patients (mean age: 10.8 years). The mean stone diameter was 19mm (range: 5-40mm). Twenty-six cases required single puncture and six required multiple tracts. Overall, 11 staghorn stones, 10 multiple calyceal stones and 11 single stones were treated. Twenty-seven patients (84%) were completely stone free following initial PCNL. Two cases had extracorporeal shock wave lithotripsy for residual fragments, giving an overall stone free rate of 91% following treatment. There was no significant bleeding or sepsis encountered either during the operation or in the post-operative setting. No patient required or received a blood transfusion. Paediatric PCNL can be performed safely with minimal morbidity using adult instruments for large stone burden, enabling rapid and complete stone clearance.

[Urinary tract infections in adults].

PubMed

Michno, Mikolaj; Sydor, Antoni

Review of urinary tract infections in adults including etiology, pathogenesis, classification and the most important therapeutic recommendations. Urinary tract infections are still a common clinical problem occurring more often in sexually active women, pregnancy, elderly , after catherization of a urinary bladder and urological surgery as well as in the co-existence of diabetes or nephrolithiasis. Due to the anatomical differences, women suffer more often than men. The main etiological factor is Escherichia coli, even though it plays a lesser role in the complicated infections, than in non-complicated ones. Apart from that, the infections may also be caused by atypical microbes, viruses and fungi. Relapses as well as reinfections are typical features of urinary tract infections and in some cases prolonged infections can spread from lower to upper urinary tract contributing to pyelonephritis, urosepsis or even death. These long-term infections can progress in a hidden, insidious, oligosymptomatic or asymptomatic manner leading to irreversible, progressive deterioration of renal function. They can also mask other diseases such as tuberculosis or neoplasms of the urinary tract, which leads to the delayed diagnosis and treatment. Diagnosis and treatment of urinary tract infections is a complex problem, often requiring specialized procedures as well as hospitalization. The choice of a therapy is determined by the type of infection, general condition, age and coexisting diseases. Rapid diagnosis and implementation of proper pharmacotherapy may shorten the time of treatment and hospitalization, preventing serious complications and reinfections.

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).

PubMed

Fisher, S E; van Bakel, I; Lloyd, S E; Pearce, S H; Thakker, R V; Craig, I W

1995-10-10

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

Hyaluronan and Stone Disease

NASA Astrophysics Data System (ADS)

Asselman, Marino

2008-09-01

Kidney stones cannot be formed as long as crystals are passed in the urine. However, when crystals are retained it becomes possible for them to aggregate and form a stone. Crystals are expected to be formed not earlier than the distal tubules and collecting ducts. Studies both in vitro and in vivo demonstrate that calcium oxalate monohydrate crystals do not adhere to intact distal epithelium, but only when the epithelium is proliferating or regenerating, so that it possesses dedifferentiated cells expressing hyaluronan, osteopontin (OPN) and their mutual receptor CD44 at the apical cell membrane. The polysaccharide hyaluronan is an excellent crystal binding molecule because of its negative ionic charge. We hypothesized that the risk for crystal retention in the human kidney would be increased when tubular cells express hyaluronan at their apical cell membrane. Two different patient categories in which nephrocalcinosis frequently occurs were studied to test this hypothesis (preterm neonates and kidney transplant patients). Hyaluronan (and OPN) expression at the luminal membrane of tubular cells indeed was observed, which preceded subsequent retention of crystals in the distal tubules. Tubular nephrocalcinosis has been reported to be associated with decline of renal function and thus further studies to extend our knowledge of the mechanisms of retention and accumulation of crystals in the kidney are warranted. Ultimately, this may allow the design of new strategies for the prevention and treatment of both nephrocalcinosis and nephrolithiasis in patients.

Tiagabine in clinical practice: effects on seizure control and behavior.

PubMed

Vossler, David G; Morris, George L; Harden, Cynthia L; Montouris, Georgia; Faught, Edward; Kanner, Andres M; Fix, Aaron; French, Jacqueline A

2013-08-01

Preapproval randomized controlled trials of antiepileptic drugs provide data in limited patient groups. We assessed the side effect and seizure reduction profile of tiagabine (TGB) in typical clinical practice. Investigators recorded adverse effect (AE), seizure, and assessment-of-benefit data prospectively in sequential patients treated open label with TGB. Two hundred ninety-two patients (39 children) were enrolled to be treated long term with TGB. Seizure types were focal-onset (86%), generalized-onset (12%), both focal- and generalized-onset (0.3%), and multiple associated with Lennox-Gastaut Syndrome (2%). Two hundred thirty-one received at least one dose of TGB (median = 28 mg/day) and had follow-up seizure or AE data reported. Common AEs were fatigue, dizziness, psychomotor slowing, ataxia, gastrointestinal upset, weight change, insomnia, and "others" (mostly behavioral). Serious AEs occurred in 19 patients: behavioral effects (n = 12), status epilepticus (n = 3), others (n = 3), and sudden unexplained death (n = 1). No patients experienced suicidal ideation/behavior, rash, nephrolithiasis, or organ failure. Seizure outcomes were seizure freedom (5%), ≥75% reduction (12%), ≥50% reduction (23%), and increased number of seizures (17%), or new seizure type (1%). Behavioral AEs occurred in a larger proportion of patients compared to those reported in TGB preapproval randomized controlled trials. A moderate percentage of patients had a meaningful reduction in seizure frequency. In clinical practice, TGB remains a useful antiepileptic drug. Copyright © 2013 Elsevier Inc. All rights reserved.

Physicochemical analysis of urinary stones from Dharmapuri district

NASA Astrophysics Data System (ADS)

Aslin Shamema, A.; Thanigai Arul, K.; Senthil Kumar, R.; Narayana Kalkura, S.

2015-01-01

Nephrolithiasis is a common disease caused by the multifactorial components such as geographical location, bacterial infection, low urine volume, and low intake of water. This disease induces severe metabolic abnormalities in the human body. As the prevalence of this disease was high in Dharmapuri district located in Tamil Nadu, urinary stones removed from the patients pertaining to this district were collected and to identify the toxic elements present in the stones. The presence of functional groups and phases of the stones were analyzed using X-ray diffraction (XRD), Fourier transform Raman spectroscopy and Fourier transform infrared spectroscopy (FT-IR). The majority of stones were found to be calcium oxalate monohydrate (COM) and mixed stones having minor existence of struvite and uric acid. Hexagonal shaped COM crystals, needle shaped uric acid crystals and layered arrangement of struvite crystals in the core region were revealed by Scanning Electron Microscopy (SEM). Thermo Gravimetric Analysis (TGA) was used to determine the thermal stability and the hardness of the stone which was measured using Vickers hardness (HV). The presence of toxic elements in stones such as zirconium and mercury was identified using Energy Dispersive X-ray Spectroscopy (EDS). The EDS analysis showed higher concentration of zirconium in the core region compared to the periphery. The percentage of zirconium was relatively high compared to other toxic elements in the stones. The Vickers hardness results indicated that high HV values in the core region than the periphery and this might be due to the presence of zirconium.

In vitro anti-inflammatory activity of selected oxalate-degrading probiotic bacteria: potential applications in the prevention and treatment of hyperoxaluria.

PubMed

Giardina, Silvana; Scilironi, Cristina; Michelotti, Angela; Samuele, Alberta; Borella, Fabio; Daglia, Maria; Marzatico, Fulvio

2014-03-01

Oxalate (Ox) is a very common component of the human diet, capable to collect in the renal tissue and bind calcium to form calcium oxalate (CaOx) crystals. A supersaturation of CaOx crystal may cause nephrocalcinosis and nephrolithiasis. The inflammation derived from the CaOx crystal accumulation, together with innate or secondary renal alterations, could strongly affect the renal function. In this case a consumption of probiotics with either oxalate-degrading activity at intestinal level and systemic anti-inflammatory activity could be an alternative approach to treat the subjects with excess of urinary oxalate excretion. 11 strains of lactic acid bacteria (Lactobacilli and Bifidobacteria), already included in the list of bacteria safe for the human use, were investigated for their capability to degrade oxalate by mean of RP-HPLC-UV method and modulate inflammation in an in vitro model system based on peripheral blood mononuclear cells. Four promising bacterial strains (Lactobacillus plantarum PBS067, Lactobacillus acidophilus LA-14, Bifidobacterium breve PBS077, Bifidobacterium longum PBS078) were identified as innovative biological tools for the prevention and the therapeutic treatment of hyperoxaluria and the inflammatory events associated to the Ox accumulation. The oxalate-degrading activity of some probiotics and their capability to modulate the release of inflammation mediators could be exploited as a new nutraceutical and therapeutic approach for the treatment of oxalate accumulation and the related inflammatory state. © 2014 Institute of Food Technologists®

Renal Involvement in Inflammatory Bowel Diseases.

PubMed

Corica, Domenico; Romano, Claudio

2016-02-01

The prevalence of extraintestinal manifestations in inflammatory bowel diseases varies from 6% to 46%. The aetiology of extraintestinal manifestations remains unclear. There are theories based on an immunological response influenced by genetic factors. Extraintestinal manifestations can involve almost every organ system. They may originate from the same pathophysiological mechanism of intestinal disease, or as secondary complications of inflammatory bowel diseases, or autoimmune diseases susceptibility. The most frequently involved organs are the joints, skin, eyes, liver and biliary tract. Renal involvement has been considered as an extraintestinal manifestation and has been described in both Crohn's disease and ulcerative colitis. The most frequent renal involvements in patients with inflammatory bowel disease are nephrolithiasis, tubulointerstitial nephritis, glomerulonephritis and amyloidosis. The aim of this review is to evaluate and report the most important data in the literature on renal involvement in patients with inflammatory bowel disease. Bibliographical searches were performed of the MEDLINE electronic database from January 1998 to January 2015 with the following key words (all fields): (inflammatory bowel disease OR Crohn's disease OR ulcerative colitis) AND (kidney OR renal OR nephrotoxicity OR renal function OR kidney disease OR renal disease OR glomerulonephritis OR interstitial nephritis OR amyloidosis OR kidney failure OR renal failure) AND (5-aminosalicylic acid OR aminosalicylate OR mesalazine OR TNF-α inhibitors OR cyclosporine OR azathioprine OR drugs OR pediatric). Copyright © 2015 European Crohn’s and Colitis Organisation (ECCO). Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

Schistosoma haematobium Infection That Mimics Bladder Cancer in a 66-Year-Old Ethnic Egyptian Man.

PubMed

Zepeda, Celenne Morfin; Coffey, Kristen H

2015-01-01

66-year-old ethnic Egyptian man. Hematuria. The patient had a history of multiple episodes of gross hematuria for the past 5 years. Because the hematuria usually resolved on its own, he did not seek medical attention during that time. Bladder cancer was suspected. The patient had a history of coronary artery disease, hypertension, nephrolithiasis, congestive heart failure, lifelong smoking, and ischemic cardiomyopathy. He has been taking the anticoagulants clopidogrel (Plavix) and warfarin (Coumadin). The patient is originally from Egypt and has been living in the United States for the past 10 years. A complete blood count showed a hemoglobin of 13.0 g per dL (reference range, 14.0 to 18.0 g per dL), hematocrit 40% (40% to 54%), red blood cell count (RBC) 4.65 × 10(9) per L (4.60 to 6.00), and platelet count 179 × 10(9) per L (150 to 450). The urinalysis results showed 3+ protein, 4+ blood, and urine RBC of greater than 100 per high power field (hpf). The urinalysis results did not indicate the presence of parasitic ova or adult parasites. Based on these results, the physician ordered cystoscopic testing, suspecting bladder cancer. Analysis of the bladder tissue showed inflammation (Image 1) and several ova that were consistent with developing Schistosoma (Image 2). Many of the ova were calcified and surrounded by severely inflamed tissue (Image 3). Copyright© by the American Society for Clinical Pathology (ASCP).

Pkd1 transgenic mice: adult model of polycystic kidney disease with extrarenal and renal phenotypes

PubMed Central

Kurbegovic, Almira; Côté, Olivier; Couillard, Martin; Ward, Christopher J.; Harris, Peter C.; Trudel, Marie

2010-01-01

While high levels of Pkd1 expression are detected in tissues of patients with autosomal dominant polycystic kidney disease (ADPKD), it is unclear whether enhanced expression could be a pathogenetic mechanism for this systemic disorder. Three transgenic mouse lines were generated from a Pkd1-BAC modified by introducing a silent tag via homologous recombination to target a sustained wild-type genomic Pkd1 expression within the native tissue and temporal regulation. These mice specifically overexpressed the Pkd1 transgene in extrarenal and renal tissues from ∼2- to 15-fold over Pkd1 endogenous levels in a copy-dependent manner. All transgenic mice reproducibly developed tubular and glomerular cysts leading to renal insufficiency. Interestingly, Pkd1TAG mice also exhibited renal fibrosis and calcium deposits in papilla reminiscent of nephrolithiasis as frequently observed in ADPKD. Similar to human ADPKD, these mice consistently displayed hepatic fibrosis and ∼15% intrahepatic cysts of the bile ducts affecting females preferentially. Moreover, a significant proportion of mice developed cardiac anomalies with severe left-ventricular hypertrophy, marked aortic arch distention and/or valvular stenosis and calcification that had profound functional impact. Of significance, Pkd1TAG mice displayed occasional cerebral lesions with evidence of ruptured and unruptured cerebral aneurysms. This Pkd1TAG mouse model demonstrates that overexpression of wild-type Pkd1 can trigger the typical adult renal and extrarenal phenotypes resembling human ADPKD. PMID:20053665

Mechanisms of herb-induced nephrotoxicity.

PubMed

Allard, T; Wenner, T; Greten, H J; Efferth, T

2013-01-01

Herbal therapies gained much popularity among the general public, but compared to therapies approved by official authorities, toxicological studies are frequently not available for them. Hence, there may be inherent risks and the kidneys may be especially vulnerable to toxic effects. Herbs may induce nephrotoxicity by induction of apoptosis. High oxalate contents in Star fruit (Averrhoa carambola L.) may induce acute nephropathy. Triptolide from Thunder God Vine (Triperygium wilfordii Hook) is a diterpenoid epoxide with induces reactive oxygen species and nephrotubular apoptosis. Cranberry juice is discussed as promoter of kidney stone formation (nephrolithiasis). Abuse of guaifenesin from Roughbark (Guaicum officinale L.) increases stone formation. Aristolochia acids from Aristolochia fangchi Y.C.Wu ex L.D. Chow & S.M. Hwang causes the well-known aristolochic acid nephropathy and carcinogenesis by DNA adduct formation. Carboxyatractyloside from Impila (Callilepsis laureola DC.) inhibits mitochondrial ATP synthesis. Acute allergic interstitial nephritis was diagnosed after intake of Peruvian Cat's claw (Uncaria tomentosa Willd. DC.). Whether or not Willow Bark (Salix alba L.) induces analgesic nephropathwy is a matter of discussion. Other herbal therapies are considered to affect the rennin-angiotensisn-aldosterone (RAA) system Ephedra sinica Stapf with its ingredient ephedrine. Devil's Claw (Harpagophytum procumbens DC. Ex Meisn.) and licorice (Glycyrrhiza glabra L.) may inhibit major renal transport processes needed for filtration, secretion, and absorption. Strategies to minimize nephrotoxicity include (1) quality control and standardization of herbal products, (2) research on the molecular modes of action to better understand pathophysiological mechanisms of herbal products as well as (3) clinical trials to demonstrate efficacy and safety.

Percutaneous nephrolithotomy in children: A preliminary report

PubMed Central

Elderwy, Ahmad A.; Gadelmoula, Mohamed; Elgammal, Mohamed A.; Osama, Ehab; Al-Hazmi, Hamdan; Hammouda, H.; Osman, Esam; Abdullah, Medhat A.; Neel, Khalid Fouda

2014-01-01

Objectives: The recurrence of pediatric nephrolithiasis, the morbidity of repeated open surgical treatment as well as our experience in percutaneous nephrolithotomy (PNL) in adult patients, all derived us to shift to PNL for managing renal stones >1.5 cm in pediatric patients. Our aim of this study is to evaluate the safety and efficacy of PNL in pediatric patients. Materials and Methods: During the period of the month between May 2011 and April 2013, 38 children (47 renal units) underwent PNL for renal stones 1.5-5 cm in length. Patient demographics, stone characteristics, and clinical outcome were prospectively studied. Data of those who underwent conventional and tubeless PNL were compared. Median follow-up period was 12 months (range: 6-24). Results: The median age at presentation was 8-year (range: 3-12). The operative time ranged from 30 to 120 min (median 90). Overall stone clearance rate was 91.5% after single PNL. The median hospital stay was 3 days. Auxiliary procedures were successful for the remaining 4 patients (nephroscopic clearance in one and shockwave lithotripsy in 3). Tubeless PNL was performed in 17 renal units with a comparable outcome to conventional ones. The perioperative complications were noted in 5/47 (10.6%) of all procedures (Clavien Grade II in 4 and Clavien Grade IIIa in 1) and were managed conservatively. Conclusions: Percutaneous nephrolithotomy for renal stones in pediatric patients is safe and feasible if performed by a well-experienced endourologist. Tubeless PNL is a better choice for children. PMID:25125889

Percutaneous nephrolithotomy in children: A preliminary report.

PubMed

Elderwy, Ahmad A; Gadelmoula, Mohamed; Elgammal, Mohamed A; Osama, Ehab; Al-Hazmi, Hamdan; Hammouda, H; Osman, Esam; Abdullah, Medhat A; Neel, Khalid Fouda

2014-07-01

The recurrence of pediatric nephrolithiasis, the morbidity of repeated open surgical treatment as well as our experience in percutaneous nephrolithotomy (PNL) in adult patients, all derived us to shift to PNL for managing renal stones >1.5 cm in pediatric patients. Our aim of this study is to evaluate the safety and efficacy of PNL in pediatric patients. During the period of the month between May 2011 and April 2013, 38 children (47 renal units) underwent PNL for renal stones 1.5-5 cm in length. Patient demographics, stone characteristics, and clinical outcome were prospectively studied. Data of those who underwent conventional and tubeless PNL were compared. Median follow-up period was 12 months (range: 6-24). The median age at presentation was 8-year (range: 3-12). The operative time ranged from 30 to 120 min (median 90). Overall stone clearance rate was 91.5% after single PNL. The median hospital stay was 3 days. Auxiliary procedures were successful for the remaining 4 patients (nephroscopic clearance in one and shockwave lithotripsy in 3). Tubeless PNL was performed in 17 renal units with a comparable outcome to conventional ones. The perioperative complications were noted in 5/47 (10.6%) of all procedures (Clavien Grade II in 4 and Clavien Grade IIIa in 1) and were managed conservatively. Percutaneous nephrolithotomy for renal stones in pediatric patients is safe and feasible if performed by a well-experienced endourologist. Tubeless PNL is a better choice for children.

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

PubMed

Prié, Dominique; Huart, Virginie; Bakouh, Naziha; Planelles, Gabrielle; Dellis, Olivier; Gérard, Bénédicte; Hulin, Philippe; Benqué-Blanchet, François; Silve, Caroline; Grandchamp, Bernard; Friedlander, Gérard

2002-09-26

Epidemiologic studies suggest that genetic factors confer a predisposition to the formation of renal calcium stones or bone demineralization. Low serum phosphate concentrations due to a decrease in renal phosphate reabsorption have been reported in some patients with these conditions, suggesting that genetic factors leading to a decrease in renal phosphate reabsorption may contribute to them. We hypothesized that mutations in the gene coding for the main renal sodium-phosphate cotransporter (NPT2a) may be present in patients with these disorders. We studied 20 patients with urolithiasis or bone demineralization and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate reabsorption. The coding region of the gene for NPT2a was sequenced in all patients. The functional consequences of the mutations identified were analyzed by expressing the mutated RNA in Xenopus laevis oocytes. Two patients, one with recurrent urolithiasis and one with bone demineralization, were heterozygous for two distinct mutations. One mutation resulted in the substitution of phenylalanine for alanine at position 48, and the other in a substitution of methionine for valine at position 147. Phosphate-induced current and sodium-dependent phosphate uptake were impaired in oocytes expressing the mutant NPT2a. Coinjection of oocytes with wild-type and mutant RNA indicated that the mutant protein had altered function. Heterozygous mutations in the NPT2a gene may be responsible for hypophosphatemia and urinary phosphate loss in persons with urolithiasis or bone demineralization. Copyright 2002 Massachusetts Medical Society

Risk of recurrence of idiopathic calcium kidney stones: analysis of data from the literature.

PubMed

Ferraro, Pietro Manuel; Curhan, Gary C; D'Addessi, Alessandro; Gambaro, Giovanni

2017-04-01

Nephrolithiasis is a frequent condition. While it is generally accepted that such condition carries a risk of recurrence over time, the exact risk and its predictors have been rarely quantitated. We aimed to estimate recurrence of kidney stones, overall and in specific subgroups, from randomized controlled trials (RCTs) of calcium stone formers. Systematic review of RCTs of adult patients with idiopathic calcium kidney stones. Recurrence rates analyzed in subgroups based on type of intervention and other characteristics, using Poisson regression models. The analysis included 21 RCTs with 2168 participants over a median follow-up of 3.2 years (range 0.5-9.7). The median recurrence of kidney stones was 15 per 100 person-years (range 0-110). Recurrence was higher in those with two or more previous stone episodes compared to those with a single episode at enrolment (16 vs. 6 per 100 person-years, p < 0.001) and in those untreated or treated with dietary changes compared to those treated with drugs (26 vs. 23 vs. 9 per 100 person-years, p < 0.001). The effect of drugs on recurrence seemed to be beneficial only among those with two or more previous stone episodes. The overall recurrence rate of stones depends on factors such as previous stone history and type of treatment. Dietary approaches seem to be more effective among single stone formers, whereas drugs seem to be more effective among recurrent stone formers.

[Troyakov. Experience in using hytolysin in the integrated management of urinary tract infections and methapylactics of nephrolithiasis].

PubMed

Saenko, V S; Kapsargin, F P; Pesegov, S V; M, V

2017-07-01

Urinary tract infection (UTI) are a risk factor for diseases leading to impairment of renal function and kidney stone disease (KSD). Growing resistance of uropathogens to antibacterial agents is a challenging issue in most countries of the world. Urolithiasis is the second most prevalent urologic condition following urinary tract infections and has a pronounced tendency to recur. Rational stone metaphylaxis leads to a significant reduction in the incidence of recurrent stones. In recent decades, there has been a markedly increasing interest in plant-based therapies in managing urologic diseases. To evaluate the effectiveness of phytotherapeutic medication Phytolysin in the integrated management of UTI and metaphylaxis of urolithiasis. Comprehensive evaluation of the effectiveness of Phytolysin was conducted at the Department of Urology, I.M. Sechenov First MSMU and Department of Urology, Andrology and Sexology, Voino-Yasenetsky Krasnoyarsk SMU in 40 women with episodes of exacerbation of chronic cystitis and 30 patients of both sexes during the postoperative metaphylaxis of the KSD. The age of the patients ranged from 20 to 68 years (mean age 40+/-2,8 years). Adding Phytolysin to the integrated management results in the improvement in general clinical signs and laboratory parameters of blood and urine, leads to a decrease in the level of leukocyturia, bacteriuria and an increase in diuresis and urinary alkalinization, reduces the number relapses of UTI and stone formation. Phytolysin is an effective and safe medication.

Similarity of urinary risk factors among stone-forming patients in five regions of the United States

NASA Technical Reports Server (NTRS)

Harvey, J. A.; Hill, K. D.; Pak, C. Y.

1990-01-01

Study Objective: To compare urinary biochemical risk factors among stone-forming patients in the Southeast (SE) or "stone belt" versus four other regions of the United States. Design: Prospective biochemical survey for regional comparisons. Setting: Referral-based nephrolithiasis clinics, urologists, nephrologists, and family practitioners. Patients: Consecutive sample of 3473 stone-forming patients who submitted 24-hour urine collections for biochemical analyses of stone-forming risk factors. Interventions: None. Subjects taking medication known to interfere with stone-forming risk factors were deleted from the final data compilation. Measurements and Main Results: Overall, the mean values for each urinary parameter spanned a narrow range without significant difference between the five regions. Among "metabolic" factors, 40% in the SE had hypercalciuria (> 6.25 mmol/d), compared to 35%-43% in other regions, and hyperuricosuria (> 4.2 mmol/d) was found in 16% in the SE versus 17%-19% elsewhere. Among "environmental" factors, low urine volume ( < 2 L/d) was found in 77% patients in the SE compared to 69%-78% elsewhere, and high sodium was encountered in 27% in the SE versus 24%-29% elsewhere. No differences were noted in occurrence of other abnormal risk factors: hyperoxaluria, hypocitraturia, low pH, high sulfate, high phosphorus, or low magnesium. Conclusions: Despite expected regional differences in nutritional and environmental influences, the results of this study showed a striking similarity in urinary biochemical risk factor profiles of stone-formers in all five regions of the United States.

Improving nutritional quality and fungal tolerance in soya bean and grass pea by expressing an oxalate decarboxylase.

PubMed

Kumar, Vinay; Chattopadhyay, Arnab; Ghosh, Sumit; Irfan, Mohammad; Chakraborty, Niranjan; Chakraborty, Subhra; Datta, Asis

2016-06-01

Soya bean (Glycine max) and grass pea (Lathyrus sativus) seeds are important sources of dietary proteins; however, they also contain antinutritional metabolite oxalic acid (OA). Excess dietary intake of OA leads to nephrolithiasis due to the formation of calcium oxalate crystals in kidneys. Besides, OA is also a known precursor of β-N-oxalyl-L-α,β-diaminopropionic acid (β-ODAP), a neurotoxin found in grass pea. Here, we report the reduction in OA level in soya bean (up to 73%) and grass pea (up to 75%) seeds by constitutive and/or seed-specific expression of an oxalate-degrading enzyme, oxalate decarboxylase (FvOXDC) of Flammulina velutipes. In addition, β-ODAP level of grass pea seeds was also reduced up to 73%. Reduced OA content was interrelated with the associated increase in seeds micronutrients such as calcium, iron and zinc. Moreover, constitutive expression of FvOXDC led to improved tolerance to the fungal pathogen Sclerotinia sclerotiorum that requires OA during host colonization. Importantly, FvOXDC-expressing soya bean and grass pea plants were similar to the wild type with respect to the morphology and photosynthetic rates, and seed protein pool remained unaltered as revealed by the comparative proteomic analysis. Taken together, these results demonstrated improved seed quality and tolerance to the fungal pathogen in two important legume crops, by the expression of an oxalate-degrading enzyme. © 2016 Society for Experimental Biology, Association of Applied Biologists and John Wiley & Sons Ltd.

Improving the lens design and performance of a contemporary electromagnetic shock wave lithotripter

PubMed Central

Neisius, Andreas; Smith, Nathan B.; Sankin, Georgy; Kuntz, Nicholas John; Madden, John Francis; Fovargue, Daniel E.; Mitran, Sorin; Lipkin, Michael Eric; Simmons, Walter Neal; Preminger, Glenn M.; Zhong, Pei

2014-01-01

The efficiency of shock wave lithotripsy (SWL), a noninvasive first-line therapy for millions of nephrolithiasis patients, has not improved substantially in the past two decades, especially in regard to stone clearance. Here, we report a new acoustic lens design for a contemporary electromagnetic (EM) shock wave lithotripter, based on recently acquired knowledge of the key lithotripter field characteristics that correlate with efficient and safe SWL. The new lens design addresses concomitantly three fundamental drawbacks in EM lithotripters, namely, narrow focal width, nonidealized pulse profile, and significant misalignment in acoustic focus and cavitation activities with the target stone at high output settings. Key design features and performance of the new lens were evaluated using model calculations and experimental measurements against the original lens under comparable acoustic pulse energy (E+) of 40 mJ. The −6-dB focal width of the new lens was enhanced from 7.4 to 11 mm at this energy level, and peak pressure (41 MPa) and maximum cavitation activity were both realigned to be within 5 mm of the lithotripter focus. Stone comminution produced by the new lens was either statistically improved or similar to that of the original lens under various in vitro test conditions and was significantly improved in vivo in a swine model (89% vs. 54%, P = 0.01), and tissue injury was minimal using a clinical treatment protocol. The general principle and associated techniques described in this work can be applied to design improvement of all EM lithotripters. PMID:24639497

Improving the lens design and performance of a contemporary electromagnetic shock wave lithotripter.

PubMed

Neisius, Andreas; Smith, Nathan B; Sankin, Georgy; Kuntz, Nicholas John; Madden, John Francis; Fovargue, Daniel E; Mitran, Sorin; Lipkin, Michael Eric; Simmons, Walter Neal; Preminger, Glenn M; Zhong, Pei

2014-04-01

The efficiency of shock wave lithotripsy (SWL), a noninvasive first-line therapy for millions of nephrolithiasis patients, has not improved substantially in the past two decades, especially in regard to stone clearance. Here, we report a new acoustic lens design for a contemporary electromagnetic (EM) shock wave lithotripter, based on recently acquired knowledge of the key lithotripter field characteristics that correlate with efficient and safe SWL. The new lens design addresses concomitantly three fundamental drawbacks in EM lithotripters, namely, narrow focal width, nonidealized pulse profile, and significant misalignment in acoustic focus and cavitation activities with the target stone at high output settings. Key design features and performance of the new lens were evaluated using model calculations and experimental measurements against the original lens under comparable acoustic pulse energy (E+) of 40 mJ. The -6-dB focal width of the new lens was enhanced from 7.4 to 11 mm at this energy level, and peak pressure (41 MPa) and maximum cavitation activity were both realigned to be within 5 mm of the lithotripter focus. Stone comminution produced by the new lens was either statistically improved or similar to that of the original lens under various in vitro test conditions and was significantly improved in vivo in a swine model (89% vs. 54%, P = 0.01), and tissue injury was minimal using a clinical treatment protocol. The general principle and associated techniques described in this work can be applied to design improvement of all EM lithotripters.

New techniques on the horizon: interventional radiology and interventional endoscopy of the urinary tract ('endourology').

PubMed

Berent, Allyson

2014-01-01

Interventional radiology and interventional endoscopy (IR/IE) uses contemporary imaging modalities, such as fluoroscopy and endoscopy, to perform diagnostic and therapeutic procedures in various body parts. The majority of IR/IE procedures currently undertaken in veterinary medicine pertain to the urinary tract, and this subspecialty has been termed 'endourology'. This technology treats diseases of the renal pelvis, ureter(s), bladder and urethra. In human medicine, endourology has overtaken traditional open urologic surgery in the past 20-30 years, and in veterinary medicine similar progress is occurring. This article presents a brief overview of some of the more common IR/IE procedures currently being performed for the treatment of urinary tract disease in veterinary patients. These techniques include percutaneous nephrolithotomy for lithotripsy of problematic nephrolithiasis, mesenchymal stem cell therapy for chronic kidney disease, sclerotherapy for the treatment of idiopathic renal hematuria, various diversion techniques for ureteral obstructions, laser lithotripsy for lower urinary tract stone disease, percutaneous cystolithotomy for removal of bladder stones, hydraulic occluder placement for refractory urinary incontinence, percutaneous cystostomy tube placement for bladder diversion, urethral stenting for benign and malignant urethral obstructions, and antegrade urethral catheterization for treatment of urethral tears. The majority of the data presented in this article is solely the experience of the author, and some of this has only been published and/or presented in abstract form or small case series. For information on traditional surgical approaches to these ailments readers are encouraged to evaluate other sources.

Extracorporeal shock wave lithotripsy (ESWL) of a renal calculus in a liver transplant recipient: report of a severe complication--a case report.

PubMed

Friedersdorff, F; Buckendahl, J; Fuller, T F; Cash, H

2010-11-01

Extracorporeal shock wave lithotripsy (ESWL) has evolved as a standard treatment modality for calculi of the upper urinary tract. Noninvasive ESWL shows rare life-threatening complications. Herein we have reported the case of a liver transplant recipient who developed severe renal hemorrhage after ESWL of a renal calculus. Transfusion of erythrocytes and platelets led to anaphylactic shock with acute renal failure requiring intensive care. The patient fully recovered shortly thereafter and was discharged home with a residual left kidney stone measuring 8 mm. A 55-year-old man with a single left kidney underwent ESWL due to symptomatic left nephrolithiasis. He had undergone successful liver transplantation 11 years earlier. At the time of ESWL his liver functions were normal and his serum creatinine level was 1.3 mg/dL. Two weeks before the treatment a double pigtail ureteral stent was inserted because of a symptomatic left hydronephrosis. Several hours after ESWL treatment the patient complained of left-sided flank pain. An ultrasound revealed a large subcapsular hematoma of the left kidney, which was confirmed using abdominal computed tomography (CT). With the patient being hemodynamically stable, we opted for conservative management. Despite postinterventional complications, the patient made a fast recovery. ESWL is a noninvasive, safe, and efficient method to treat renal calculi. Patients who are at risk for hemorrhage should undergo close postinterventional monitoring, including red blood cell count and renal ultrasound. Copyright © 2010 Elsevier Inc. All rights reserved.

Loss of Cystic Fibrosis Transmembrane Regulator Impairs Intestinal Oxalate Secretion.

PubMed

Knauf, Felix; Thomson, Robert B; Heneghan, John F; Jiang, Zhirong; Adebamiro, Adedotun; Thomson, Claire L; Barone, Christina; Asplin, John R; Egan, Marie E; Alper, Seth L; Aronson, Peter S

2017-01-01

Patients with cystic fibrosis have an increased incidence of hyperoxaluria and calcium oxalate nephrolithiasis. Net intestinal absorption of dietary oxalate results from passive paracellular oxalate absorption as modified by oxalate back secretion mediated by the SLC26A6 oxalate transporter. We used mice deficient in the cystic fibrosis transmembrane conductance regulator gene (Cftr) to test the hypothesis that SLC26A6-mediated oxalate secretion is defective in cystic fibrosis. We mounted isolated intestinal tissue from C57BL/6 (wild-type) and Cftr -/- mice in Ussing chambers and measured transcellular secretion of [ 14 C]oxalate. Intestinal tissue isolated from Cftr -/- mice exhibited significantly less transcellular oxalate secretion than intestinal tissue of wild-type mice. However, glucose absorption, another representative intestinal transport process, did not differ in Cftr -/- tissue. Compared with wild-type mice, Cftr -/- mice showed reduced expression of SLC26A6 in duodenum by immunofluorescence and Western blot analysis. Furthermore, coexpression of CFTR stimulated SLC26A6-mediated Cl - -oxalate exchange in Xenopus oocytes. In association with the profound defect in intestinal oxalate secretion, Cftr -/- mice had serum and urine oxalate levels 2.5-fold greater than those of wild-type mice. We conclude that defective intestinal oxalate secretion mediated by SLC26A6 may contribute to the hyperoxaluria observed in this mouse model of cystic fibrosis. Future studies are needed to address whether similar mechanisms contribute to the increased risk for calcium oxalate stone formation observed in patients with cystic fibrosis. Copyright © 2016 by the American Society of Nephrology.

Kidney stone composition in the Kingdom of Saudi Arabia
.

PubMed

Amir, Abdulrazack; Matlaga, Brian R; Ziemba, Justin B; Sheikh, Salwa

2018-05-01

Urolithiasis is a globally-distributed disease; however, its prevalence varies across countries and regions. Countries in the Middle East have been reported to have particularly high nephrolithiasis prevalence rates. To date, however, we have an incomplete understanding of the composition of stones seen in this region. Therefore, we performed a study to characterize stone composition over a 14-year period in the Eastern Province of the Kingdom of Saudi Arabia (KSA). A retrospective review of all adult patients who had the composition of their upper urinary tract calculi analyzed at Johns Hopkins Aramco Healthcare (JHAH) between 1999 and 2013 was performed. Patient demographics and pathology results were obtained from the electronic medical record. A total of 1,747 stones were analyzed in the study period. The results are presented in the Table. Male patients predominated (79%). For both men and women, the majority of stones were calcium oxalate: 85.2% male, 85.9% female. Uric acid stones were the next most common: 10.1% male; 9.0% female. Overall, there were no significant differences between gender with regards to the distribution of stone types. This study represents one of the largest characterizations of stone composition in the Middle East. There remains a significant gender disparity in stone prevalence in the Eastern Province of KSA, with males affected to a significantly greater extent. Calcium oxalate is the most common type of stone, and this is true for both men and women. Future investigations of dietary and environmental factors can build on these initial epidemiologic findings.
.

How accurate is unenhanced multidetector-row CT (MDCT) for localization of renal calculi?

PubMed

Goetschi, Stefan; Umbehr, Martin; Ullrich, Stephan; Glenck, Michael; Suter, Stefan; Weishaupt, Dominik

2012-11-01

To investigate the correlation between unenhanced MDCT and intraoperative findings with regard to the exact anatomical location of renal calculi. Fifty-nine patients who underwent unenhanced MDCT for suspected urinary stone disease, and who underwent subsequent flexible ureterorenoscopy (URS) as treatment of nephrolithiasis were included in this retrospective study. All MDCT data sets were independently reviewed by three observers with different degrees of experience in reading CT. Each observer was asked to indicate presence and exact anatomical location of any calcification within pyelocaliceal system, renal papilla or renal cortex. Results were compared to intraoperative findings which have been defined as standard of reference. Calculi not described at surgery, but present on MDCT data were counted as renal cortex calcifications. Overall 166 calculi in 59 kidneys have been detected on MDCT, 100 (60.2%) were located in the pyelocaliceal system and 66 (39.8%) in the renal parenchyma. Of the 100 pyelocaliceal calculi, 84 (84%) were correctly located on CT data sets by observer 1, 62 (62%) by observer 2, and 71 (71%) by observer 3. Sensitivity/specificity was 90-94% and 50-100% if only pyelocaliceal calculi measuring >4 mm in size were considered. For pyelocaliceal calculi≤4 mm in size diagnostic performance of MDCT was inferior. Compared to flexible URS, unenhanced MDCT is accurate for distinction between pyelocaliceal calculi and renal parenchyma calcifications if renal calculi are >4 mm in size. For smaller renal calculi, unenhanced MDCT is less accurate and distinction between a pyelocaliceal calculus and renal parenchyma calcification is difficult. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Epidemiology of stone disease across the world.

PubMed

Sorokin, Igor; Mamoulakis, Charalampos; Miyazawa, Katsuhito; Rodgers, Allen; Talati, Jamsheer; Lotan, Yair

2017-09-01

Nephrolithiasis is a highly prevalent disease worldwide with rates ranging from 7 to 13% in North America, 5-9% in Europe, and 1-5% in Asia. Due to high rates of new and recurrent stones, management of stones is expensive and the disease has a high level of acute and chronic morbidity. The goal of this study is to review the epidemiology of stone disease in order to improve patient care. A review of the literature was conducted through a search on Pubmed ® , Medline ® , and Google Scholar ® . This review was presented and peer-reviewed at the 3rd International Consultation on Stone Disease during the 2014 Société Internationale d'Urologie Congress in Glasgow. It represents an update of the 2008 consensus document based on expert opinion of the most relevant studies. There has been a rising incidence in stone disease throughout the world with a narrowing of the gender gap. Increased stone prevalence has been attributed to population growth and increases in obesity and diabetes. General dietary recommendations of increased fluid, decreased salt, and moderate intake of protein have not changed. However, specific recommended values have either changed or are more frequently reported. Geography and environment influenced the likelihood of stone disease and more information is needed regarding stone disease in a large portion of the world including Asia and Africa. Randomized controlled studies are lacking but are necessary to improve recommendations regarding diet and fluid intake. Understanding the impact of associated conditions that are rapidly increasing will improve the prevention of stone disease.

Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.

PubMed

Baran, Natalia; ter Braak, Michael; Saffrich, Rainer; Woelfle, Joachim; Schmitz, Udo

2015-05-15

Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium sensing receptor gene (CaR) and characterised by mostly asymptomatic mild to moderate hypocalcaemia with low, inappropriately serum concentration of PTH. The purpose of the present study was to biochemically and functionally characterise a novel mutation of CaR. A female proband presenting with hypocalcaemia was diagnosed to have "idiopathic hypoparathyroidism" at the age of 10 with a history of muscle pain and cramps. Further examinations demonstrated hypocalcaemia in nine additional family members, affecting three generations. P136L CaR mutation was predicted to cause gain of function of CaR. Affected family members showed relevant hypocalcaemia (mean ± SD; 1.9 ± 0.1 mmol/l). Patient history included mild seizures and recurrent nephrolithiasis. Genetic analysis confirmed that hypocalcaemia cosegregated with a heterozygous mutation at codon 136 (CCC → CTC/Pro → Leu) in exon 3 of CaR confirming the diagnosis of ADH. For in vitro studies P136L mutant CaR was generated by site-directed mutagenesis and examined in transiently transfected HEK293 cells. Extracellular calcium stimulation of transiently transfected HEK293 cells showed significantly increased intracellular Ca(2+) mobilisation and MAPK activity for mutant P136L CaR compared to wild type CaR. The present study gives insight about a novel activating mutation of CaR and confirms that the novel P136L-CaR mutation is responsible for ADH in this family. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Calcium nephrolithiasis: effect of water hardness on urinary electrolytes.

PubMed

Schwartz, Bradley F; Schenkman, Noah S; Bruce, Jeremy E; Leslie, Stephen W; Stoller, Marshall L

2002-07-01

To analyze the impact of water hardness from public water supplies on calcium stone incidence and 24-hour urine chemistries in patients with known calcium urinary stone formation. Patients are frequently concerned that their public water supply may contribute to urinary stone disease. Investigators have documented an inverse relationship between water hardness and calcium lithogenesis. Others have found no such association. Patients who form calcium stones (n = 4833) were identified geographically by their zip code. Water hardness information from distinct geographic public water supplies was obtained, and patient 24-hour urine chemistries were evaluated. Drinking water hardness was divided into decile rankings on the basis of the public water supply information obtained from the Environmental Protection Agency. These data were compared with patient questionnaires and 24-hour urine chemistries. The calcium and magnesium levels in the drinking water were analyzed as independent variables. The number of total lifetime stone episodes was similar between patients residing in areas with soft public water and hard public water. Patients consuming the softest water decile formed 3.4 lifetime stones and those who consumed the hardest water developed 3.0 lifetime stones (P = 0.0017). The 24-hour urine calcium, magnesium, and citrate levels increased directly with drinking water hardness, and no significant change was found in urinary oxalate, uric acid, pH, or volume. The impact of water hardness on urinary stone formation remains unclear, despite a weak correlation between water hardness and urinary calcium, magnesium, and citrate excretion. Tap water, however, can change urinary electrolytes in patients who form calcium stones.

Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

PubMed Central

Ichikawa, Shoji; Tuchman, Shamir; Padgett, Leah R.; Gray, Amie K.; Baluarte, H. Jorge; Econs, Michael J.

2013-01-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6 ½-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24- hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH) levels, and elevated 1,25(OH)2D level. In addition, the patient had low to low-normal serum phosphorus with high urine phosphorus. The patient had normal stature; without rachitic or boney deformities or a history of fractures. Genetic analysis of SLC34A3 revealed the patient to be a compound heterozygote for a novel single base pair deletion in exon 12 (c.1304delG) and 30-base pair deletion in intron 6 (g.1440–1469del). The single-base pair mutation causes a frameshift, which results in premature stop codon. The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63 bp, which would impair proper RNA splicing of the intron. This is the fourth unique intronic deletion identified in patients with HHRH, suggesting the frequent occurrence of sequence misalignments in SLC34A3 and the importance of screening introns in patients with HHRH. PMID:24176905

Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.

PubMed

Ichikawa, Shoji; Tuchman, Shamir; Padgett, Leah R; Gray, Amie K; Baluarte, H Jorge; Econs, Michael J

2014-02-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia, variable degrees of rickets/osteomalacia, and hypercalciuria secondary to increased serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels. HHRH is caused by mutations in the SLC34A3 gene, which encodes sodium-phosphate co-transporter type IIc. A 6-1/2-year-old female presented with a history of nephrolithiasis. Her metabolic evaluation revealed increased 24-hour urine calcium excretion with high serum calcium, low intact parathyroid hormone (PTH), and elevated 1,25(OH)2D. In addition, the patient had low to low-normal serum phosphorus with high urine phosphorus. The patient had normal stature; without rachitic or boney deformities or a history of fractures. Genetic analysis of SLC34A3 revealed the patient to be a compound heterozygote for a novel single base pair deletion in exon 12 (c.1304delG) and 30-base pair deletion in intron 6 (g.1440-1469del). The single-base pair mutation causes a frameshift, which results in premature stop codon. The intronic deletion is likely caused by misalignment of the 4-basepair homologous repeats and results in the truncation of an already small intron to 63bp, which would impair proper RNA splicing of the intron. This is the fourth unique intronic deletion identified in patients with HHRH, suggesting the frequent occurrence of sequence misalignments in SLC34A3 and the importance of screening introns in patients with HHRH. © 2013.

Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

PubMed Central

Ramos-Trujillo, Elena; Claverie-Martin, Felix; Garcia-Nieto, Victor; Ariceta, Gema; Vara, Julia; Gonzalez-Acosta, Hilaria; Garcia-Ramirez, Marta; Fons, Jaime; Cordoba-Lanus, Elizabeth; Gonzalez-Paredes, Javier; Valenciano, Blanca; Ramos, Leticia; Muley, Rafael; Caggiani, Marina; Alvarez-Estrada, Pilar; Madrid, Alvaro

2013-01-01

Dent’s disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger ClC-5. Occasionally, Dent’s disease has been associated to atypical cases of asymptomatic proteinuria with focal glomerulosclerosis. Twelve unrelated patients with Dent’s disease, including two who presented with asymptomatic proteinuria and developed glomerulosclerosis, were studied. Mutational analysis of the CLCN5 gene was performed by DNA sequencing. We identified thirteen distinct CLCN5 mutations in the twelve patients. Seven of these mutations, p.P416fsX*17, p.[H107P, V108fs*27], p.G466D, p.G65R, p.G462S, p.Y164* and c.723+1G >T, were novel and possibly pathogenic. In one family, the patient’s mother was not a carrier of the respective mutation. Our results increased the spectrum of CLCN5 disease causing defects with seven new pathogenic mutations and established a de novo origin in one of them. Remarkably, three new missense mutations, p.G466D, p.G65R and p.G462S, affect highly conserved glycine residues located in transmembrane α-helix GxxxG packing motifs. The two atypical cases further support that the diagnosis of Dent’s disease should be considered in children with asymptomatic proteinuria and focal glomerulosclerosis and without evidence of primary glomerular disease. PMID:27625851

Effect of Potassium Citrate on Calcium Phosphate Stones in a Model of Hypercalciuria

PubMed Central

Asplin, John R.; Frick, Kevin K.; Granja, Ignacio; Culbertson, Christopher D.; Ng, Adeline; Grynpas, Marc D.; Bushinsky, David A.

2015-01-01

Potassium citrate is prescribed to decrease stone recurrence in patients with calcium nephrolithiasis. Citrate binds intestinal and urine calcium and increases urine pH. Citrate, metabolized to bicarbonate, should decrease calcium excretion by reducing bone resorption and increasing renal calcium reabsorption. However, citrate binding to intestinal calcium may increase absorption and renal excretion of both phosphate and oxalate. Thus, the effect of potassium citrate on urine calcium oxalate and calcium phosphate supersaturation and stone formation is complex and difficult to predict. To study the effects of potassium citrate on urine supersaturation and stone formation, we utilized 95th-generation inbred genetic hypercalciuric stone-forming rats. Rats were fed a fixed amount of a normal calcium (1.2%) diet supplemented with potassium citrate or potassium chloride (each 4 mmol/d) for 18 weeks. Urine was collected at 6, 12, and 18 weeks. At 18 weeks, stone formation was visualized by radiography. Urine citrate, phosphate, oxalate, and pH levels were higher and urine calcium level was lower in rats fed potassium citrate. Furthermore, calcium oxalate and calcium phosphate supersaturation were higher with potassium citrate; however, uric acid supersaturation was lower. Both groups had similar numbers of exclusively calcium phosphate stones. Thus, potassium citrate effectively raises urine citrate levels and lowers urine calcium levels; however, the increases in urine pH, oxalate, and phosphate levels lead to increased calcium oxalate and calcium phosphate supersaturation. Potassium citrate induces complex changes in urine chemistries and resultant supersaturation, which may not be beneficial in preventing calcium phosphate stone formation. PMID:25855777

Alkali absorption and citrate excretion in calcium nephrolithiasis

NASA Technical Reports Server (NTRS)

Sakhaee, K.; Williams, R. H.; Oh, M. S.; Padalino, P.; Adams-Huet, B.; Whitson, P.; Pak, C. Y.

1993-01-01

The role of net gastrointestinal (GI) alkali absorption in the development of hypocitraturia was investigated. The net GI absorption of alkali was estimated from the difference between simple urinary cations (Ca, Mg, Na, and K) and anions (Cl and P). In 131 normal subjects, the 24 h urinary citrate was positively correlated with the net GI absorption of alkali (r = 0.49, p < 0.001). In 11 patients with distal renal tubular acidosis (RTA), urinary citrate excretion was subnormal relative to net GI alkali absorption, with data from most patients residing outside the 95% confidence ellipse described for normal subjects. However, the normal relationship between urinary citrate and net absorbed alkali was maintained in 11 patients with chronic diarrheal syndrome (CDS) and in 124 stone-forming patients devoid of RTA or CDS, half of whom had "idiopathic" hypocitraturia. The 18 stone-forming patients without RTA or CDS received potassium citrate (30-60 mEq/day). Both urinary citrate and net GI alkali absorption increased, yielding a significantly positive correlation (r = 0.62, p < 0.0001), with the slope indistinguishable from that of normal subjects. Thus, urinary citrate was normally dependent on the net GI absorption of alkali. This dependence was less marked in RTA, confirming the renal origin of hypocitraturia. However, the normal dependence was maintained in CDS and in idiopathic hypocitraturia, suggesting that reduced citrate excretion was largely dietary in origin as a result of low net alkali absorption (from a probable relative deficiency of vegetables and fruits or a relative excess of animal proteins).

Influence of nutritional status, laboratory parameters and dietary patterns upon urinary acid excretion in calcium stone formers.

PubMed

Tessaro, Carolini Zanette Warmling; Ramos, Christiane Ishikawa; Heilberg, Ita Pfeferman

2018-04-26

Obesity and Metabolic Syndrome (MS) are associated with low urinary pH and represent risk factors for nephrolithiasis, especially composed by uric acid. Acidogenic diets may also contribute to a reduction of urinary pH. Propensity for calcium oxalate precipitation has been shown to be higher with increasing features of the MS. A retrospective evaluation of anthropometric and body composition parameters, MS criteria and the dietary patterns of overweight and obese calcium stone formers and their impact upon urinary pH and other lithogenic parameters was performed. Data regarding anthropometry, body composition, serum and urinary parameters and 3-days dietary records were obtained from medical records of 102(34M/68F) calcium stone formers. A negative correlation was found between urinary pH, waist circumference and serum uric acid levels (males). The endogenous production of organic acids (OA) was positively correlated with triglycerides levels and number of features of MS (males), and with glucose, uric acid and triglycerides serum levels, and number of features of MS (females). No significant correlations were detected between Net Acid Excretion (NAE) or Potential Renal Acid Load of the diet with any of the assessed parameters. A multivariate analysis showed a negative association between OA and urinary pH. The endogenous production of OA and not an acidogenic diet were found to be independently predictive factors for lower urinary pH levels in calcium stone formers. Hypercalciuric and/or hyperuricosuric patients presented higher OA levels and lower levels of urinary pH.

Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3.

PubMed

Wang, Xinsheng; Zhao, Xiangzhong; Wang, Xiaoling; Yao, Jian; Zhang, Feifei; Lang, Yanhua; Tuffery-Giraud, Sylvie; Bottillo, Irene; Shao, Leping

2015-01-01

Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. A Chinese child with early-onset nephrolithiasis was suspected of having PH. We searched for AGXT, GRHPR and HOGA1 gene mutations in this patient and his parents. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Two heterozygous mutations not previously described in the literature about HOGA1 were identified (compound heterozygous). One mutation was a successive 2 bp substitution at the last nucleotide of exon 6 and at the first nucleotide of intron 6, respectively (c.834_834 + 1GG>TT), while the other one was a guanine to adenine substitution of the last nucleotide of exon 6 (c.834G>A). Direct sequencing analysis failed to find these mutations in 100 unrelated healthy subjects and the functional role on splicing of both variants found in this study was confirmed by a minigene assay based on the pSPL3 exon trapping vector. In addition, we found a SNP in this family (c.715G>A, p.V239I). There were no mutations detected in AGXT and GRHPR. Two novel HOGA1 mutations were identified in association with PH3. This is the first description and investigation on mutant gene analysis of PH3 in an Asian. © 2015 S. Karger AG, Basel

Iranian Nephrology and Urology Research Output in the Past Two Decades: A Bibliographic Analysis of Medline Database.

PubMed

Einollahi, Behzad; Motalebi, Mohsen; Taghipour, Mehrdad; Ebrahimi, Mehrdad

2015-09-01

We performed a bibliometric search to evaluate the number of papers published in the field of nephrology and urology by Iranian researchers in the past two decades. We did an online search in abstract/title part of articles with 129 keywords such as kidney, renal, hemodialysis, transplant, nephrology, glomerulonephritis, ureteral, nephrolithiasis, and etc. Endnote software version 7 was used to search articles published in PubMed database from November 1993 to November 2013. Those articles in which Iran was the affiliation of at least one of the authors were selected. These articles in the field of nephrology and urology were analyzed regarding the name of originated institution, field of study, total number of publications, type of study, collaboration rate of Iranian nephrologist and urologists for every year, annual sharing of Iranian articles in five journals with highest impact factor (IF) and journal IF. The total number of publications in the field of nephrology and urology was 3,771 (average of 189 papers per year). Most of the Iranian nephrology and urology papers were from the capital city, Tehran (50.03%). There was an increasing trend in the number of publications over the years. Most papers were about transplantation (44.6%), nephrology (20.9%) and hemodialysis (16.4%). Of all, 53.7% were retrospective articles, whereas the proportion of clinical trials was relatively small (10.8%). Although Iranian publications in the field of nephrology and urology have had a considerable and significant increase in the recent years amongst the Middle Eastern countries, there is a wide distance to be a science exporter country.

Expanding living kidney donor criteria with ex-vivo surgery for renal anomalies

PubMed Central

McGregor, Thomas B.; Rampersad, Christie; Patel, Premal

2016-01-01

Introduction: Renal transplantation remains the gold standard treatment for end-stage renal disease, with living donor kidneys providing the best outcomes in terms of allograft survival. As the number of patients on the waitlist continues to grow, solutions to expand the donor pool are ongoing. A paradigm shift in the eligibility of donors with renal anomalies has been looked at as a potential source to expand the living donor pool. We sought to determine how many patients presented with anatomic renal anomalies at our transplant centre and describe the ex-vivo surgical techniques used to render these kidneys suitable for transplantation. Methods: A retrospective review was performed of all patients referred for surgical suitability to undergo laparoscopic donor nephrectomy between January 2011 and January 2015. Patient charts were analyzed for demographic information, perioperative variables, urological histories, and postoperative outcomes. Results: 96 referrals were identified, of which 81 patients underwent laparoscopic donor nephrectomy. Of these patients, 11 (13.6%) were identified as having a renal anomaly that could potentially exclude them from the donation process. These anomalies included five patients with unilateral nephrolithiasis, four patients with large renal cysts (>4 cm diameter), one patient with an angiomyolipoma (AML) and one patient with a calyceal diverticulum filled with stones. A description of the ex-vivo surgical techniques used to correct these renal anomalies is provided. Conclusions: We have shown here that ex-vivo surgical techniques can safely and effectively help correct some of these renal anomalies to render these kidneys transplantable, helping to expand the living donor pool. PMID:27800047

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.

PubMed

Pelle, Alessandra; Cuccurullo, Alessandra; Mancini, Cecilia; Sebastiano, Regina; Stallone, Giovanni; Negrisolo, Susanna; Benetti, Elisa; Peruzzi, Licia; Petrarulo, Michele; De Marchi, Mario; Marangella, Martino; Amoroso, Antonio; Giachino, Daniela; Mandrile, Giorgia

2017-04-01

Primary hyperoxaluria (PH) is a rare autosomal recessive disease commonly arising in childhood and presenting with nephrolithiasis, nephrocalcinosis and/or chronic renal failure. Three genes are currently known as responsible: alanine-glyoxylate aminotransferase (AGXT, PH type 1), glyoxylate reductase/hydroxypyruvate reductase (GRHPR, PH type 2), and 4-hydroxy-2-oxoglutarate aldolase (HOGA1, PH type 3). In our Centre, at the end of 2014 molecular diagnosis of PH1 had been performed in 80 patients, while one patient received a PH2 diagnosis. Fifteen patients referred to our Centre and suspected to have PH on clinical grounds were negative for pathogenic variants in the entire coding sequence and exon-intron boundaries of the AGXT gene. Therefore, we extended the analysis to the AGXT promoter region and the GRHPR and HOGA1 genes. Two patients were heterozygous for two novel AGXT-promoter variants (c.-647C > T, c.-424C > T) that were probably non pathogenic. One patient was homozygous for a novel HOGA1 variant of intron 2 (c.341-81delT), whose pathogenicity predicted by in silico splicing tools was not confirmed by a minigene splicing assay in COS-7 and HEK293T cells. New genetic subtypes of PH can be hypothesized in our patients, that may be caused by mutations in other gene encoding proteins of glyoxylate metabolism. Alternatively, some kind of mutations (e.g., deletions/duplications, deep intronic splicing regulatory variants) could be missed in a few cases, similarly to other genetic diseases.

Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria.

PubMed

Kovacevic, Larisa; Lu, Hong; Caruso, Joseph A; Govil-Dalela, Tuhina; Thomas, Ronald; Lakshmanan, Yegappan

2017-06-01

Using a proteomic approach, we aimed to identify and compare the urinary excretion of proteins involved in lipid transport and metabolism in children with kidney stones and hypercalciuria (CAL), hypocitraturia (CIT), and normal metabolic work-up (NM), and in healthy controls (HCs). Additionally, we aimed to confirm these results using ELISA, and to examine the relationship between the urinary excretion of selected proteins with demographic, dietary, blood, and urinary parameters. Prospective, controlled, pilot study of pooled urine from CAL, CIT, and NM versus age- and gender-matched HCs, using liquid chromatography-mass spectrometry. Relative protein abundance was estimated using spectral counting. Results were confirmed by ELISA performed on individual samples. Of the 1,813 proteins identified, 230 met the above criteria. Of those, 5 proteins (apolipoprotein A-II [APOA2]; apolipoprotein A-IV [APOA4]; apolipoprotein C-III [APOA3]; fatty acid-binding protein, liver [FABPL]; fatty acid-binding protein, adipocyte [FABP4]) involved in lipid metabolism and transport were found in the CAL group, with significant differences compared with HCs. ELISA analysis indicated statistically significant differences in the urinary excretion of APOC3, APOA4, and FABPL in the CAL group compared with HCs. Twenty-four-hour urinary calcium excretion correlated significantly with concentrations of ApoC3 (r = 0.77, p < 0.001), and FABPL (r = 0.80, p = 0.005). We provide proteomic data showing increased urinary excretion of lipid metabolism/transport-related proteins in children with kidney stones and hypercalciuria. These findings suggest that abnormalities in lipid metabolism might play a role in kidney stone formation.

Clinical use of patient decision-making aids for stone patients.

PubMed

Lim, Amy H; Streeper, Necole M; Best, Sara L; Penniston, Kristina L; Nakada, Stephen Y

2017-08-01

Patient decision-making aids (PDMAs) help patients make informed healthcare decisions and improve patient satisfaction. The utility of PDMAs for patients considering treatments for urolithiasis has not yet been published. We report our experience using PDMAs developed at our institution in the outpatient clinical setting in patients considering a variety of treatment options for stones. Patients with radiographically confirmed urolithiasis were given PDMAs regarding treatment options for their stone(s) based on their clinical profile. We assessed patients' satisfaction, involvedness, and feeling of making a more informed decision with utilization of the PDMAs using a Likert Scale Questionnaire. Information was also collected regarding previous stone passage, history and type of surgical intervention for urolithiasis, and level of education. Patients (n = 43; 18 males, 23 females and two unknown) 53 +/- 14years old were included. Patients reported that they understood the advantages and disadvantages outlined in the PDMAs (97%), that the PDMAs helped them make a more informed decision (83%) and felt more involved in the decision making process (88%). Patients reported that the aids were presented in a balanced manner and used up-to-date scientific information (100%, 84% respectively). Finally, a majority of the patients prefer an expert's opinion when making a treatment decision (98%) with 73% of patients preferring to form their own opinion based on available information. Previous stone surgery was associated with patients feeling more involved with the decision making process (p = 0.0465). PDMAs have a promising role in shared decision-making in the setting of treatment options for nephrolithiasis.

Safety and feasibility of day case ureteroscopy and laser lithotripsy (URSL) in patients with a solitary kidney.

PubMed

Ghosh, Anngona; Somani, Bhaskar K

2016-01-01

The management of nephrolithiasis in patients with a solitary kidney poses a treatment challenge. The study aimed to evaluate the outcomes of ureteroscopy and laser stone fragmentation (URSL) for renal stones in these patients treated in our university teaching hospital. Between July 2012 and December 2014, seventeen cases of URSL for stones in a solitary kidney were reviewed. Patient demographics, stone dimensions, perioperative and post-operative outcomes were recorded in a prospectively maintained database. Serum creatinine levels pre-procedure and at follow-up were also compared. Seventeen cases of URSL were conducted with a mean age of 52.9 ±19.9 years. 8 of the 17 (47%) patients had stones in multiple locations and 13 (76%) were in the lower pole. The mean ± SD stone size and BMI were 13.0 ±8.9 mm and 31.6 ±5.8 kg/m(2), respectively. The stone free rate (SFR) was 82.5%. Fourteen (82.5%) patients were discharged the same day and 16 cases (94%) were discharged within 24 hours. For patients with deranged pre-operative serum creatinine, the mean serum creatinine level improved from 131.2 ±68.3 µmol/L pre-URSL to 106.5 ±36.7 µmol/L at follow-up. There was one Clavien grade II complication with a patient requiring additional antibiotics for post-operative urinary tract infection. There were no other major or minor complications. Day case ureteroscopy for stone disease in a solitary kidney is safe and feasible with a low complication rate and an overall improvement in renal function.

Can a Simplified 12-Hour Nighttime Urine Collection Predict Urinary Stone Risk?

PubMed

Hinck, Bryan D; Ganesan, Vishnuvardhan; Tarplin, Sarah; Asplin, John; Granja, Ignacio; Calle, Juan; Sivalingam, Sri; Monga, Manoj

2017-10-01

To determine if there is correlation between nighttime 12-hour and traditional 24-hour urine collection in regard to chemistry values and the supersaturations of calcium oxalate, calcium phosphate, and uric acid for the metabolic evaluation of nephrolithiasis. Ninety-five patients were prospectively enrolled from 2013 to 2015. Patients >18 years of age who presented to a tertiary stone clinic and who would normally be counseled for 24-hour urine collection were eligible for the study. Participants completed 24-hour urine collections twice, with each divided into 2 separate 12-hour collections. Day-time collection began after the first morning void and continued for 12 hours. The night collection proceeded for the next 12 hours through the first morning void. Forty-nine 24-hour samples from 35 patients met inclusion criteria and were included in the analysis. Overall, there was strong correlation between the night 12-hour and the 24-hour urine collections with R 2 ranging from 0.76 for pH to 0.96 for Citrate. In our analysis of variability, the nighttime 12-hour collection differed from the 24-hour collection by 30% in 1-9 patients (2.0%-18.4%) based on individual chemistry value. Diagnosis of underlying metabolic abnormalities was concordant in 92% of patients. A 12-hour nighttime collection has strong correlation with 24-hour urine collection. As such, simplifying the metabolic evaluation to a 12-hour overnight collection may be feasible-improving compliance and decreasing patient burden. Copyright © 2017 Elsevier Inc. All rights reserved.

Assessment of urinary inhibitor or promoter activity in uric acid nephrolithiasis

PubMed Central

Doizi, Steeve; Rodgers, Kathy; Poindexter, John; Sakhaee, Khashayar; Maalouf, Naim M.

2017-01-01

Purpose To assess the presence of a reduced inhibitor activity or an increased promoter activity in urine of idiopathic uric acid stone formers (IUASF) compared to non-stone formers (NSF) independent of urinary pH. Methods 30 IUASF, 9 obese NSF and 12 lean NSF collected 24-hour urine under metabolic diet. Three urine aliquots per subject were used to assess spontaneous nucleation (SN, de novo crystal formation), crystal growth (CG) using a 0.1 mg/mL seed of anhydrous uric acid (UA) and steady state (SS) of UA solubility using a 5 mg/mL seed of UA (assessing maximum amount of UA dissolvable in urine). All experiments were conducted for 6 hours at a constant pH of 5.0. UA concentration was measured in filtered aliquots at 0, 3 and 6 hours. Results At baseline, 24-hour urinary pH was significantly lower and UA saturation significantly higher in IUASF. No significant SN occurred and a similar SS UA concentration was reached in the three groups. IUASF and lean NSF displayed a similar decrease in UA concentration during CG, while obese NSF started with higher UA concentration and consequently displayed higher magnitude of decrease in UA concentration for CG. Conclusions This study suggests that there is no significant difference between IUASF and NSF in terms of promoter or inhibitor activity in whole urine against UA stone formation when urine pH is maintained constant. The findings suggest that UA stone formation is dictated by a high urinary saturation with respect to UA, driven primarily by a low urine pH. PMID:26723865

[Epidemiological study on urinary stones in the region of Fez and the risk of recurrence].

PubMed

El Habbani, R; Chaqroune, A; Sqalli Houssaini, T; Arrayhani, M; El Ammari, J; Dami, F; Chouhani, B A; Lahrichi, A

2016-04-01

In Morocco, few works on morpho-constitutional analysis of urinary calculi have been published, especially for patients in the region of Fez. This work aims to make a retrospective epidemiological study on the nature of urinary calculi with patients from the region of Fez and control the urine of the same patients after a period of three months to report on the risk of recurrence. Urinary stones were collected mostly in the nephrology service and urology service at the Hassan II Hospital in Fez. These calculations after being dried for 24 hours at room temperature underwent a morphological analysis, followed by infrared spectroscopic analysis Fourier transform. After a period of about three months, morning urine of the same patients was analyzed by crystalluria to control the presence of crystals that reflect a risk of recurrence. In our series of 123 samples, the age of patients ranges from 2-79 years. The prevalence was higher for men with a sex ratio of 1.3. The results of the analysis calculations showed that 61% were formed of calcium oxalate and 15% of uric acid and 25% of stones were carbapatite, struvite, cystine… The study by crystalluria urine revealed the presence of the crystals in 69% of patients' nephrolithiasis. The results of our study are conformed to the series of results in other regions of Morocco regarding the predominance of calcium oxalate stones. The presence of crystals in the urine of 69% of patients may indicate other recurrences. 4. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Uric acid as one of the important factors in multifactorial disorders – facts and controversies

PubMed Central

Pasalic, Daria; Marinkovic, Natalija; Feher-Turkovic, Lana

2012-01-01

With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an “antioxidant”, a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms. PMID:22384520

Uric acid as one of the important factors in multifactorial disorders--facts and controversies.

PubMed

Pasalic, Daria; Marinkovic, Natalija; Feher-Turkovic, Lana

2012-01-01

With considering serum concentration of the uric acid in humans we are observing hyperuricemia and possible gout development. Many epidemiological studies have shown the relationship between the uric acid and different disorders such are obesity, metabolic syndrome, hypertension and coronary artery disease. Clinicians and investigators recognized serum uric acid concentration as very important diagnostic and prognostic factor of many multifactorial disorders. This review presented few clinical conditions which are not directly related to uric acid, but the concentrations of uric acid might have a great impact in observing, monitoring, prognosis and therapy of such disorders. Uric acid is recognized as a marker of oxidative stress. Production of the uric acid includes enzyme xanthine oxidase which is involved in producing of radical-oxigen species (ROS). As by-products ROS have a significant role in the increased vascular oxidative stress and might be involved in atherogenesis. Uric acid may inhibit endothelial function by inhibition of nitric oxide-function under conditions of oxidative stress. Down regulation of nitric oxide and induction of endothelial dysfunction might also be involved in pathogenesis of hypertension. The most important and well evidenced is possible predictive role of uric acid in predicting short-term outcome (mortality) in acute myocardial infarction (AMI) patients and stroke. Nephrolithiasis of uric acid origin is significantly more common among patients with the metabolic syndrome and obesity. On contrary to this, uric acid also acts is an "antioxidant", a free radical scavenger and a chelator of transitional metal ions which are converted to poorly reactive forms.

Urinary metabonomics elucidate the therapeutic mechanism of Orthosiphon stamineus in mouse crystal-induced kidney injury.

PubMed

Gao, Songyan; Chen, Wei; Peng, Zhongjiang; Li, Na; Su, Li; Lv, Diya; Li, Ling; Lin, Qishan; Dong, Xin; Guo, Zhiyong; Lou, Ziyang

2015-05-26

Orthosiphon stamineus (OS), a traditional Chinese herb, is often used for promoting urination and treating nephrolithiasis. Urolithiasis is a major worldwide public health burden due to its high incidence of recurrence and damage to renal function. However, the etiology for urolithiasis is not well understood. Metabonomics, the systematic study of small molecule metabolites present in biological samples, has become a valid and powerful tool for understanding disease phenotypes. In this study, a urinary metabolic profiling analysis was performed in a mouse model of renal calcium oxalate crystal deposition to identify potential biomarkers for crystal-induced renal damage and the anti-crystal mechanism of OS. Thirty six mice were randomly divided into six groups including Saline, Crystal, Cystone and OS at dosages of 0.5g/kg, 1g/kg, and 2g/kg. A metabonomics approach using ultra-performance liquid chromatography coupled with quadrupole-time-of-flight mass spectrometry (UHPLC-Q-TOF/MS) was developed to perform the urinary metabolic profiling analysis. Principal component analysis (PCA) and partial least squares discriminant analysis (PLS-DA) were utilized to identify differences between the metabolic profiles of mice in the saline control group and crystal group. Using partial least squares-discriminant analysis, 30 metabolites were identified as potential biomarkers of crystal-induced renal damage. Most of them were primarily involved in amino acid metabolism, taurine and hypotaurine metabolism, purine metabolism, and the citrate cycle (TCA). After the treatment with OS, the levels of 20 biomarkers had returned to the levels of the control samples. Our results suggest that OS has a protective effect for mice with crystal-induced kidney injury via the regulation of multiple metabolic pathways primarily involving amino acid, energy and choline metabolism. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Response to Dietary Oxalate after Bariatric Surgery

PubMed Central

Froeder, Leila; Arasaki, Carlos Haruo; Malheiros, Carlos Alberto; Baxmann, Alessandra Calábria

2012-01-01

Summary Background and objectives Bariatric surgery (BS) may be associated with increased oxalate excretion and a higher risk of nephrolithiasis. This study aimed to investigate urinary abnormalities and responses to an acute oxalate load as an indirect assessment of the intestinal absorption of oxalate in this population. Design, setting, participants, & measurements Twenty-four–hour urine specimens were collected from 61 patients a median of 48 months after BS (post-BS) as well as from 30 morbidly obese (MO) participants; dietary information was obtained through 24-hour food recalls. An oral oxalate load test (OLT), consisting of 2-hour urine samples after overnight fasting and 2, 4, and 6 hours after consuming 375 mg of oxalate (spinach juice), was performed on 21 MO and 22 post-BS patients 12 months after BS. Ten post-BS patients also underwent OLT before surgery (pre-BS). Results There was a higher percentage of low urinary volume (<1.5 L/d) in post-BS versus MO (P<0.001). Hypocitraturia and hyperoxaluria (P=0.13 and P=0.36, respectively) were more frequent in BS versus MO patients. The OLT showed intragroup (P<0.001 for all periods versus baseline) and intergroup differences (P<0.001 for post-BS versus MO; P=0.03for post-BS versus pre-BS). The total mean increment in oxaluria after 6 hours of load, expressed as area under the curve, was higher in both post-BS versus MO and in post-BS versus pre-BS participants (P<0.001 for both). Conclusions The mean oxaluric response to an oxalate load is markedly elevated in post-bariatric surgery patients, suggesting that increased intestinal absorption of dietary oxalate is a predisposing mechanism for enteric hyperoxaluria. PMID:23024163

Comparison of miniaturized percutaneous nephrolithotomy and flexible ureterorenoscopy for moderate size renal stones in elderly patients.

PubMed

Ozgor, Faruk; Yanaral, Fatih; Savun, Metin; Ozdemir, Harun; Caglar, Ufuk; Sarilar, Omer

2018-06-01

Life expectancy has become longer, thus the number of elderly people who require treatment for nephrolithiasis has increased. We aimed to analyze the efficacy of flexible ureterorenoscopy (f-URS) and miniaturized percutaneous nephrolithotomy (mPNL) in the management of 10 and 30 mm renal stones in patients aged >60 years. In prospective non-randomized series, the data of patients who underwent f-URS or mPNL for kidney stones between July 2013 and July 2016 were analyzed. The procedure was accepted as successful if the patient was achieved complete stone clearance according to CT imaging between 1-3 months postoperatively. In total 60 patients and 58 patients were underwent f-URS and mPNL, respectively. The mean operation time, fluoroscopy time and hospitalization time were significantly shorter for the f-URS (p < 0.001, p < 0.001, p < 0.001, respectively). According to Clavien classification system, complication rates were not significantly different between the groups (p = 0.673). The stone-free rate was 81.7% for the f-URS group and 77.6% for the mPNL group after a single-session procedure (p = 0.747). Calcium oxalate monohydrate stones were the most common stone type in both groups. In multivariate analysis, multiple stones localization was only independent factor to predict complications. Our study had showed that both f-URS and mPNL are effective treatment modalities for 10-30-mm renal stones in elderly patients. Additionally, presence of stones in multiple location was the only predictive factor for complication development. Copyright © 2017 Kaohsiung Medical University. Published by Elsevier Taiwan. All rights reserved.

Determinants of calcium and oxalate excretion in subjects with calcium nephrolithiasis: the role of metabolic syndrome traits.

PubMed

Ticinesi, Andrea; Guerra, Angela; Allegri, Franca; Nouvenne, Antonio; Cervellin, Gianfranco; Maggio, Marcello; Lauretani, Fulvio; Borghi, Loris; Meschi, Tiziana

2018-06-01

The association of metabolic syndrome (MetS) traits with urinary calcium (UCE) or oxalate excretion (UOE) is uncertain in calcium stone formers (CSFs). Our aim was to investigate this association in a large group of Caucasian CSFs. We retrospectively reviewed data of CSFs evaluated at our Kidney Stone Clinic from 1984 to 2015. Data on body mass index (BMI), MetS traits defined according to international consensus, family history of urolithiasis, anti-hypertensive treatments, calcemia, renal function, and 24-h urinary profile of lithogenic risk were collected. The association between MetS traits and UCE or UOE was tested with multivariate linear regression models accounting for a long list of potential confounders. We included 3003 CSFs, aged 44 ± 14 years. The prevalence of hypertension, diabetes, overweight (BMI ≥ 25 kg/m 2 ) and dyslipidemia was 17, 2, 42 and 38%, respectively. Median values of UCE and UOE were 211 mg/24 h (IQR 143-296) and 28 mg/24 h (IQR 22-34), respectively. At a multivariate model, including age, sex, date of examination, drug treatments, family history, renal function, blood calcium and urinary factors as covariates, hypertension was a significant positive determinant of UCE (β ± SE 0.23 ± 0.07, p = 0.003), but overweight, dyslipidemia and diabetes were not. No MetS trait was significantly associated with UOE in multivariate models. In a large group of Caucasian CSFs, hypertension was the only MetS trait significantly associated with UCE, while no MetS trait was associated with oxalate excretion.

The efficacy and safety of etanercept in patients with rheumatoid arthritis and spondyloarthropathy on hemodialysis.

PubMed

Senel, Soner; Kisacik, Bunyamin; Ugan, Yunus; Kasifoglu, Timucin; Tunc, Ercan; Cobankara, Veli

2011-10-01

We aimed to evaluate the efficacy and safety of long-term use of etanercept therapy in patients with spondyloarthropathy (SpA) and rheumatoid arthritis (RA) on hemodialysis (HD). Selected RA or SpA patients treated with etanercept under HD were retrospectively evaluated. Etanercept-related adverse events were closely recorded for all patients. At the follow-up, erythrocyte sedimentation rate and C-reactive protein levels were monitored. Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) for SpA patients and Disease Activity Score (DAS28) for RA patients were measured at every 3 or 6 months. In total five end-stage renal disease (ESRD) patients were enrolled to the study. The causes of ESRD in the study subjects were amyloidosis (n = 2), analgesic nephropathy (n = 2), and nephrolithiasis (n = 1). Three were diagnosed as SpA and two were RA. All patients used etanercept. The median age was 39 years (range 22-72 years). The median disease duration was 12 years (range 2-20 years). The median follow-up after etanercept therapy was 18 months (range 5-33 months). DAS28 score decreased after the treatment and did not increase during follow-up in RA patients. BASDAI score decreased after the treatment during follow-up in three patients with SpA. At the follow-up, only one patient was diagnosed with septic arthritis. As a result of our study, etanercept treatment in RA and SpA patients on HD seems to be safe, well tolerated, and effective in most of the patients. Above all, due to impaired host defense in patients with ESRD, enhanced risk of infections should be kept in mind during follow-up period and larger trials are needed to prove the safety of etanercept in HD patients.

Diagnostic ultrasound at MACH 20: retroperitoneal and pelvic imaging in space.

PubMed

Jones, J A; Sargsyan, A E; Barr, Y R; Melton, S; Hamilton, D R; Dulchavsky, S A; Whitson, P A

2009-07-01

An operationally available diagnostic imaging capability augments spaceflight medical support by facilitating the diagnosis, monitoring and treatment of medical or surgical conditions, by improving medical outcomes and, thereby, by lowering medical mission impacts and the probability of crew evacuation due to medical causes. Microgravity-related physiological changes occurring during spaceflight can affect the genitourinary system and potentially cause conditions such as urinary retention or nephrolithiasis for which ultrasonography (U/S) would be a useful diagnostic tool. This study describes the first genitourinary ultrasound examination conducted in space, and evaluates image quality, frame rate, resolution requirements, real-time remote guidance of nonphysician crew medical officers and evaluation of on-orbit tools that can augment image acquisition. A nonphysician crew medical officer (CMO) astronaut, with minimal training in U/S, performed a self-examination of the genitourinary system onboard the International Space Station, using a Philips/ATL Model HDI-5000 ultrasound imaging unit located in the International Space Station Human Research Facility. The CMO was remotely guided by voice commands from experienced, earth-based sonographers stationed in Mission Control Center in Houston. The crewmember, with guidance, was able to acquire all of the target images. Real-time and still U/S images received at Mission Control Center in Houston were of sufficient quality for the images to be diagnostic for multiple potential genitourinary applications. Microgravity-based ultrasound imaging can provide diagnostic quality images of the retroperitoneum and pelvis, offering improved diagnosis and treatment for onboard medical contingencies. Successful completion of complex sonographic examinations can be obtained even with minimally trained nonphysician ultrasound operators, with the assistance of ground-based real-time guidance.

A systematic review to determine the most effective interventions to increase water intake.

PubMed

Chua, Teresa X W; Prasad, Neha S; Rangan, Gopala K; Allman-Farinelli, Margaret; Rangan, Anna M

2016-10-01

Maintaining adequate fluid intake has been hypothesized to be beneficial for the progression of chronic kidney disease (CKD). The aim of this study was to undertake a systematic review to determine the most effective interventions to increase water intake. Six electronic databases were searched from 1910 until March 2015 in the English language. Additional sources through hand-searches, expert recommendations and reviews were checked. Intervention studies increasing water intake in adults through non-pharmacological methods were eligible for inclusion. The quality of included studies was assessed. A total of 950 studies were found of which 16 met the inclusion criteria. Eight studies were randomized controlled trials, and seven studies spanned 6 months or longer. The study populations varied and included patients with recurrent nephrolithiasis (n = 6), autosomal dominant polycystic kidney disease (n = 3), CKD (n = 1), urinary tract infection (n = 1) and other miscellaneous conditions (n = 5). The quality of the studies was mostly neutral (63%) with no studies of high quality. Interventions ranged from instruction alone to self-monitoring tools, providing water bottles and counselling and education. Most interventions successfully increased water intake with 13 studies reporting an increase of at least 500 mL. The most effective strategies were instruction and self-monitoring using urine dipstick or 24 h urine volume. All interventions carried out in the studies succeeded in increasing water intake, with none leading to decreases in intake, and these could be implemented in potential clinical trials in CKD. However, more high quality long-term intervention studies are required to further validate findings. © 2015 Asian Pacific Society of Nephrology.

Association with meteo-climatological factors and daily emergency visits for renal colic and urinary calculi in Cuneo, Italy. A retrospective observational study, 2007-2010

NASA Astrophysics Data System (ADS)

Condemi, Vincenzo; Gestro, Massimo; Dozio, Elena; Tartaglino, Bruno; Corsi Romanelli, Massimiliano Marco; Solimene, Umberto; Meco, Roberto

2015-03-01

The incidence of nephrolithiasis is rising worldwide, especially in women and with increasing age. Incidence and prevalence of kidney stones are affected by genetic, nutritional, and environmental factors. The aim of this study is to investigate the link between various meteorological factors (independent variables) and the daily number of visits to the Emergency Department (ED of the S. Croce and Carle Hospital of Cuneo for renal colic (RC) and urinary stones (UC) as the dependent variable over the years 2007-2010. The Poisson generalized regression models (PGAMs) have been used in different progressive ways. The results of PGAMs (stage 1) adjusted for seasonal and calendar factors confirmed a significant correlation ( p < 0.03) with the thermal parameter. Evaluation of the dose-response effect [PGAMs combined with distributed lags nonlinear models (DLNMs)—stage 2], expressed in terms of relative risk (RR) and cumulative relative risk (RRC), indicated a relative significant effect up to 15 lag days of lag (RR > 1), with a first peak after 5 days (lag ranges 0-1, 0-3, and 0-5) and a second weak peak observed along the 5-15 lag range days. The estimated RR for females was significant, mainly in the second and fourth age group considered (19-44 and >65 years): RR for total ED visits 1.27, confidence interval (CI) 1.11-1.46 (lag 0-5 days); RR 1.42, CI 1.01-2.01 (lag 0-10 days); and RR 1.35, CI 1.09-1.68 (lag 0-15 days). The research also indicated a moderate involvement of the thermal factor in the onset of RC caused by UC, exclusively in the female sex. Further studies will be necessary to confirm these results.

Prolonged exposure to 1,25(OH)2D3 and high ionized calcium induces FGF-23 production in intestinal epithelium-like Caco-2 monolayer: A local negative feedback for preventing excessive calcium transport.

PubMed

Rodrat, Mayuree; Wongdee, Kannikar; Panupinthu, Nattapon; Thongbunchoo, Jirawan; Teerapornpuntakit, Jarinthorn; Krishnamra, Nateetip; Charoenphandhu, Narattaphol

2018-02-15

Overdose of oral calcium supplement and excessive intestinal calcium absorption can contribute pathophysiological conditions, e.g., nephrolithiasis, vascular calcification, dementia, and cardiovascular accident. Since our previous investigation has indicated that fibroblast growth factor (FGF)-23 could abolish the 1,25-dihydroxyvitamin D 3 [1,25(OH) 2 D 3 ]-enhanced calcium absorption, we further hypothesized that FGF-23 produced locally in the enterocytes might be part of a local negative feedback loop to regulate calcium absorption. Herein, 1,25(OH) 2 D 3 was found to enhance the transcellular calcium transport across the epithelium-like Caco-2 monolayer, and this stimulatory effect was diminished by preceding prolonged exposure to high-dose 1,25(OH) 2 D 3 or high concentration of apical ionized calcium. Pretreatment with a neutralizing antibody for FGF-23 prevented this negative feedback regulation of calcium hyperabsorption induced by 1,25(OH) 2 D 3 . FGF-23 exposure completely abolished the 1,25(OH) 2 D 3 -enhanced calcium transport. Western blot analysis revealed that FGF-23 expression was upregulated in a dose-dependent manner by 1,25(OH) 2 D 3 or apical calcium exposure. Finally, calcium-sensing receptor (CaSR) inhibitors were found to prevent the apical calcium-induced suppression of calcium transport. In conclusion, prolonged exposure to high apical calcium and calcium hyperabsorption were sensed by CaSR, which, in turn, increased FGF-23 expression to suppress calcium transport. This local negative feedback loop can help prevent unnecessary calcium uptake and its detrimental consequences. Copyright © 2018 Elsevier Inc. All rights reserved.

Sensitivity of Noncontrast Computed Tomography for Small Renal Calculi With Endoscopy as the Gold Standard.

PubMed

Bhojani, Naeem; Paonessa, Jessica E; El Tayeb, Marawan M; Williams, James C; Hameed, Tariq A; Lingeman, James E

2018-04-03

To compare the sensitivity of noncontrast computed tomography (CT) with endoscopy for detection of renal calculi. Imaging modalities for detection of nephrolithiasis have centered on abdominal x-ray, ultrasound, and noncontrast CT. Sensitivities of 58%-62% (abdominal x-ray), 45% (ultrasound), and 95%-100% (CT) have been previously reported. However, these results have never been correlated with endoscopic findings. Idiopathic calcium oxalate stone formers with symptomatic calculi requiring ureteroscopy were studied. At the time of surgery, the number and the location of all calculi within the kidney were recorded followed by basket retrieval. Each calculus was measured and sent for micro-CT and infrared spectrophotometry. All CT scans were reviewed by the same genitourinary radiologist who was blinded to the endoscopic findings. The radiologist reported on the number, location, and size of each calculus. Eighteen renal units were studied in 11 patients. Average time from CT scan to ureteroscopy was 28.6 days. The mean number of calculi identified per kidney was 9.2 ± 6.1 for endoscopy and 5.9 ± 4.1 for CT (P <.004). The mean size of total renal calculi (sum of the longest stone diameters) per kidney was 22.4 ± 17.1 mm and 18.2 ± 13.2 mm for endoscopy and CT, respectively (P = .06). CT scan underreports the number of renal calculi, probably missing some small stones and being unable to distinguish those lying in close proximity to one another. However, the total stone burden seen by CT is, on average, accurate when compared with that found on endoscopic examination. Copyright © 2018 Elsevier Inc. All rights reserved.

Clinical value of crystalluria and quantitative morphoconstitutional analysis of urinary calculi.

PubMed

Frochot, Vincent; Daudon, Michel

2016-12-01

Crystalluria is a marker of urine supersaturation with substances deriving from metabolic disorders, inherited diseases or drugs. The investigation of crystalluria must be done according to a protocol which includes the delivery to the laboratory of a proper urine sample, the use of a microscope equipped with polarized light, the accurate knowledge of urine pH, and a comprehensive examination of the crystals, which is based on their identification, quantification and size measurement. For unusual crystals, infrared spectroscopy may also be needed. If the formation of stones is always preceded by crystalluria, the reverse is not true. In addition to the crystalline composition, stone morphology provides valuable information on stone activity and, for some crystalline species, major information regarding the underlying pathology. Fourier transform infrared spectroscopy (FTIR) reliably identify specific forms of nephrolithiasis, as common-type stones made of calcium oxalate (CaOx) and/or calcium phosphate that is combined with morphology classification; using this method, stones may be classified into 6 types subdivided in 22 subtypes. The investigation of crystalluria is an inexpensive and valuable tool for the detection and the monitoring of inherited and acquired diseases associated with urinary stone formation or acute or chronic renal function impairment from intrarenal crystal precipitation. Selective FTIR identification of the composition of core (or the umbilication), middle part, and surface of every stone allows identification of the initiating lithogenic process (in the nucleus or in the Randall's plaque) and the factors which subsequently contributed to stone growth. In conclusion, the proposed morpho-constitutional method of urinary stone analysis, which moreover is rapid and low cost, provides clinically relevant orientations for targeted etiologic evaluation. Copyright © 2016 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

The influence of renal manifestations to the progression of autosomal dominant polycystic kidney disease

PubMed Central

Idrizi, A; Barbullushi, M; Petrela, E; Kodra, S; Koroshi, A; Thereska, N

2009-01-01

Background: Renal stones, urinary tract infections (UTI) and gross hematuria (GH) are the most important renal manifestations of autosomal dominant polycystic kidney disease (ADPKD). They are not only common, but are also frequent cause of morbidity, influencing renal dysfunction. The aim of this study was to evaluate the frequency of these manifestations in our patients with ADPKD and their impact on renal function. Methods: One hundred eighty ADPKD patients were included in the study. Subjects were studied for the presence of UTI, gross hematuria frequency and responsible factors of nephrolithiasis. Survival times were calculated as the time to renal replacement therapy or time of serum creatinine value up to 10 mg/dl. Kaplan-Meier product-limit survival curves were constructed, and log rank test was used to compare the survival curves. Results: Kidney stones were present in 76/180 (42% of pts). The stones were composed of urate (47%) calcium oxalate (39%), and other compounds 14%. UTI was observed in 60% (108 patients). Patients treated with urinary disinfectants had a significant lower frequency of urinary infection (p<0.001) and hematuria (p<0.001) after one year than untreated patients. Gross hematuria was present in 113 patients (63%). In 43 patients hematuria was diagnosed before age 30 (38%), while in 70 patients it was diagnosed after age 30 (62%). Conclusions: UTI is frequent in our ADPKD patients. The correct treatment of UTI decreases its frequency and has beneficial role in the rate of progression to renal failure in ADPKD patients. Patients with recurrent episodes of gross hematuria may be at risk for more severe renal disease. PMID:19918304

Role for limited neck exploration in young adults with apparently sporadic primary hyperparathyroidism.

PubMed

Adam, Laura A; Smith, Brian J; Calva-Cerqueira, Daniel; Howe, James R; Lal, Geeta

2008-07-01

The risk of multiglandular disease (MGD) dictates the extent of exploration in patients with primary hyperparathyroidism (PHPT). Historically, young patients with PHPT were more likely to have MGD, but the existing literature is sparse and conflicting. We hypothesized that young adults (ages 16-40 years) without familial PHPT have a disease process similar to that in older patients. A 22-year retrospective chart review was performed on patients who underwent neck exploration for PHPT at our tertiary care center. Altogether, 708 charts were reviewed for demographics, family history, laboratory values, operative findings, pathology, and outcomes. As a group, young adults comprised 14.0% of the total population and were more likely to have preexisting familial disorders of PHPT (p < 0.01), therapeutic failure (p < 0.01), failure to identify an abnormal parathyroid at operation (p < 0.01), and higher reoperative rates (p = 0.02); they were less likely to have single-gland disease (p = 0.04). Young adults without a family history of the disease demonstrated no disease differences except for a higher rate of symptoms (p < 0.01). Additional analysis found that patients with a family history of hypercalcemia, a sole family member with PHPT, or nephrolithiasis ("possible" family history) were more likely to have MGD (relative risk 2.0). In this largest single-institution study of young adults with sporadic PHPT, we conclude that sporadic PHPT in young adults represents a disease entity similar to that in older patients, with no increased risk for MGD, and hence they can be managed with a similar surgical approach. Further studies are needed to assess the role of a "possible" family history as a risk factor for MGD.

Lateral approach to nephrotomy in the management of unilateral renal calculi in a rabbit (Oryctolagus cuniculus).

PubMed

Martorell, Jaime; Bailon, Diego; Majó, Natalia; Andaluz, Anna

2012-04-01

A 5-year-old 2.23-kg (4.91-lb) spayed female Lop rabbit (Oryctolagus cuniculus) was evaluated because of a history of lethargy, polyuria, and polydipsia of 1 month's duration. The referring veterinarian made a presumptive diagnosis of hypercalcemia of unknown etiology on the basis of a plasma total calcium concentration of 14.0 mg/dL. Physical examination findings were unremarkable. Hematologic and plasma biochemical analysis revealed nonregenerative, normocytic, normochromic anemia (PCV, 28%) with heteropenia (23%; 1,334 heterophils/mL) and a total plasma calcium concentration of 16 mg/dL. Radiographic and ultrasonographic examination revealed radiodense and hyperechoic structures in both renal pelves and right unilateral nephrolithiasis. Nephrotomy was performed via laparotomy with a right lateral approach. A nephrolith composed of calcium carbonate and carbonate apatite was removed from the right renal pelvis. The rabbit's plasma tested positive for antibodies against Encephalitozoon cuniculi by means of an indirect immunofluorescence assay, and fenbendazole (20 mg/kg [9.1 mg/lb], p.o., q 24 h) was administered for 28 days. Although plasma calcium concentration was not substantially decreased after treatment (values were 14.1 and 15.1 mg/dL 1 week and 3 months after surgery, respectively), the patient did not have clinical signs of hypercalcemia and died of unrelated causes approximately 1 year after surgery. To the authors' knowledge, this is the first report of a nephrotomy performed in a rabbit via a lateral abdominal approach. This approach allowed easy location of the kidney and also reduced manipulation, thus decreasing the risk of damaging the abdominal viscera and potentially decreasing postoperative pain.

A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.

PubMed

Chi, Yue; Zhao, Zhen; He, Xiaodong; Sun, Yue; Jiang, Yan; Li, Mei; Wang, Ou; Xing, Xiaoping; Sun, Andrew Y; Zhou, Xueying; Meng, Xunwu; Xia, Weibo

2014-02-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder inherited in an autosomal recessive fashion and characterized by hypophosphatemia, short stature, rickets and/or osteomalacia, and secondary absorptive hypercalciuria. HHRH was recently mapped to chromosome 9q34, which contains the gene SLC34A3 which encodes the renal proximal tubular sodium-phosphate cotransporter NaPi-IIc. Here we describe a 29-year-old man with a history of childhood rickets who presented with increased renal phosphate clearance leading to hypophosphatemia, hypercalciuria, low serum parathyroid hormone (PTH), elevated serum 1,25-dihydroxyvitamin D (1,25(OH)2D) and recurrent nephrolithiasis. We performed a mutation analysis of SLC34A3 (exons and adjacent introns) of the proband and his parents to determine if there was a genetic contribution. The proband proved to be compound heterozygous for two missense mutations in SLC34A3: one novel mutation in exon 7 c.571G>C (p.G191R) and one previously identified mutation in exon 13 c.1402C>T (p.R468W). His parents were both asymptomatic heterozygous carriers of one of these two mutations. We also performed an oral phosphate loading test and compared serum phosphate, intact PTH, and intact fibroblast growth factor 23 (iFGF23) in this patient versus patients with other forms of hypophosphatemic rickets, the results of which further revealed that the mechanism of hypophosphatemia in HHRH is independent of FGF23. This is the first report of HHRH in the Chinese population. Our findings of the novel mutation in exon 7 add to the list of more than 20 reported mutations of SLC34A3. Copyright © 2013 Elsevier Inc. All rights reserved.

[Massive pleural effusion complicating chronic pancreatitis. Treatment by endoscopic closure of a pancreatic-mediastinal fistula].

PubMed

Trudzinski, F C; Rädle, J; Treiber, G; Kramm, T; Sybrecht, G W

2008-11-01

A 53-year-old man was admitted because of anuria, dyspnea and a septic temperature. The patients' history included chronic alcoholism, chronic pancreatitis, COPD and a right nephrectomy because of nephrolithiasis. Urosepsis was initially suspected. The patients' clinical condition and nutritional state were severely reduced. Laboratory findings revealed severe systemic inflammation (leucocyte count: 22.4/nl, CRP: 324 mg/l). Computed tomography showed a large left-sided pleural effusion, encapsulated abdominal fluid below the diaphragm and alongside the pancreatic tail. After aspiration of the pleural effusion the diagnosis of an exsudate with elevated concentration of lipase (56,000 U/l) was confirmed. Endoscopic ultrasound showed a 3-4 cm pseudocystic mass originating in the region of the pancreatic tail. The ERP depicted chronic pancreatitis with strictures and destruction of the pancreatic duct. Two fistulae were identified, one proximal to a ductal stricture in the pancreatic head and a second one in the pancreatic tail which corresponded to the reported pseudocyst. The patient was admitted to the ICU with symptoms of impending sepsis. The pleural effusion was treated with CT-guided chest drainage. The initial endoscopic attempt at stent closure of the fistula failed because it was possible to pass through the ductal stricture only with a thin hydrophilic wire and small-lumen catheter. However, injection of fibrin glue into the proximal pancreatic duct over a length of 2 cm obliterated the fistula and the pleural effusion was resolved. Pancreatic-pleural or pancreatic-mediastinal fistula is a rare complication of pancreatitis associated with unilateral pleural effusion. Combined internal endoscopic drainage and external chest drainage is the treatment of choice. After failure of routine endoscopic therapy, endoscopic closure of fistulas using fibrin glue might offer an alternative treatment strategy.

Occult urolithiasis in asymptomatic primary hyperparathyroidism.

PubMed

Tay, Yu-Kwang Donovan; Liu, Minghao; Bandeira, Leonardo; Bucovsky, Mariana; Lee, James A; Silverberg, Shonni J; Walker, Marcella D

2018-05-01

Recent international guidelines suggest renal imaging to detect occult urolithiasis in all patients with asymptomatic primary hyperparathyroidism (PHPT), but data regarding their prevalence and associated risk factors are limited. We evaluated the prevalence and risk factors for occult urolithiasis. Cross-sectional analysis of 96 asymptomatic PHPT patients from a university hospital in the United States with and without occult nephrolithiasis. Occult urolithiasis was identified in 21% of patients. Stone formers had 47% higher 24-hour urinary calcium excretion (p = 0.002). Although available in only a subset of patients (n = 28), activated vitamin D [1,25(OH) 2 D] was 29% higher (p = 0.02) in stone formers. There was no difference in demographics, BMI, calcium or vitamin D intake, other biochemistries, renal function, BMD, or fractures. Receiver operating characteristic curves indicated that urinary calcium excretion and 1,25(OH) 2 D had an area under the curve of 0.724 (p = 0.003) and 0.750 (p = 0.04), respectively. A urinary calcium threshold of >211mg/day provided a sensitivity of 84.2% and a specificity of 55.3% while a 1,25(OH) 2 D threshold of >91pg/mL provided a sensitivity and specificity of 62.5% and 90.0% respectively for the presence of stones. Occult urolithiasis is present in about one-fifth of patients with asymptomatic PHPT and is associated with higher urinary calcium and 1,25(OH) 2 D. Given that most patients will not have occult urolithiasis, targeted imaging in those most likely to have occult stones rather than screening all asymptomatic PHPT patients may be useful. The higher sensitivity of urinary calcium versus 1,25(OH) 2 D suggests screening those with higher urinary calcium may be an appropriate approach.

Validation of a novel cost effective easy to produce and durable in vitro model for kidney-puncture and PNL-Simulation.

PubMed

Klein, Jan Thorsten; Rassweiler, Jens; Rassweiler-Seyfried, Marie-Claire Charlotte

2018-03-29

Nephrolithiasis is one of the most common diseases in urology. According to the EAU Guidelines, a percutaneous nephrolitholapaxy (PNL) is recommended when treating a kidney stone >2 cm. Nowadays PNL is performed even for smaller stones (<1 cm) using miniaturized instruments. The most challenging part of any PNL is the puncture of the planned site. PNL-novice surgeons need to practice this step in a safe environment with an ideal training model. We developed and evaluated a new, easy to produce, in-vitro model for the training of the freehand puncture of the kidney. Porcine kidneys with ureters were embedded in ballistic gel. Food coloring and preservative agent were added. We used the standard imaging modalities of X-ray and ultrasound to validate the training model. An additional new technique, the iPAD guided puncture, was evaluated. Five novices and three experts conducted 12 punctures for each imaging technique. Puncture time, radiation dose, and number of attempts to a successful puncture were measured. Mann-Whitney-U, Kruskal-Wallis, and U-Tests were used for statistical analyses. The sonographic guided puncture is slightly but not significantly faster than the fluoroscopic guided puncture and the iPAD assisted puncture. Similarly, the most experienced surgeon's time for a successful puncture was slightly less than that of the residents, and the experienced surgeons needed the least attempts to perform a successful puncture. In terms of radiation exposure, the residents had a significant reduction of radiation exposure compared to the experienced surgeons. The newly developed ballistic gel kidney-puncture model is a good training tool for a variety of kidney puncture techniques, with good content, construct, and face validity.

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be Masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

PubMed Central

Kremke, B.; Bergwitz, C.; Ahrens, W.; Schütt, S.; Schumacher, M.; Wagner, V.; Holterhus, P.-M.; Jüppner, H.; Hiort, O.

2015-01-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by mutations in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. Despite increased urinary calcium excretion, HHRH is typically not associated with kidney stones prior to treatment. However, here we describe two sisters, who displayed nephrolithiasis or nephrocalcinosis upon presentation. The index patient, II-4, presented with short stature, bone pain, and knee X-rays suggestive of mild rickets at age 8.5 years. Laboratory evaluation showed hypophosphatemia, elevated 1,25(OH) 2 vitamin D levels, and hypercalciuria, later also developing vitamin D deficiency. Her sister, II-6, had a low normal serum phosphorous level, biochemically vitamin D deficiency and no evidence for osteomalacia, but had undergone left nephro-ureterectomy at age 17 because of ureteral stricture secondary to renal calculi. Nucleotide sequence analysis of DNA from II-4 and II-6 revealed a homozygous missense mutation c.586G>A (p.G196R) in SLC34A3/NaPi-IIc. Ultrasonographic examinations prior to treatment showed grade I nephrocalcinosis for II-4, while II-6 had grade I-II nephrocalcinosis in her remaining kidney. Four siblings and the mother were heterozygous carriers of the mutation, but showed no biochemical abnormalities. With oral phosphate supplements, hypophosphatemia and hypercalciuria improved in both homozygous individuals. Renal calcifications that are presumably due to increased urinary calcium excretion can be the presenting finding in homozygous carriers of G196R in SLC34A3/NaPi-IIc, and some or all laboratory features of HHRH may be masked by vitamin D deficiency. PMID:18523928

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.

PubMed

Kremke, B; Bergwitz, C; Ahrens, W; Schütt, S; Schumacher, M; Wagner, V; Holterhus, P-M; Jüppner, H; Hiort, O

2009-02-01

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by mutations in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. Despite increased urinary calcium excretion, HHRH is typically not associated with kidney stones prior to treatment. However, here we describe two sisters, who displayed nephrolithiasis or nephrocalcinosis upon presentation. The index patient, II-4, presented with short stature, bone pain, and knee X-rays suggestive of mild rickets at age 8.5 years. Laboratory evaluation showed hypophosphatemia, elevated 1,25(OH) (2) vitamin D levels, and hypercalciuria, later also developing vitamin D deficiency. Her sister, II-6, had a low normal serum phosphorous level, biochemically vitamin D deficiency and no evidence for osteomalacia, but had undergone left nephro-ureterectomy at age 17 because of ureteral stricture secondary to renal calculi. Nucleotide sequence analysis of DNA from II-4 and II-6 revealed a homozygous missense mutation c.586G>A (p.G196R) in SLC34A3/NaPi-IIc. Ultrasonographic examinations prior to treatment showed grade I nephrocalcinosis for II-4, while II-6 had grade I-II nephrocalcinosis in her remaining kidney. Four siblings and the mother were heterozygous carriers of the mutation, but showed no biochemical abnormalities. With oral phosphate supplements, hypophosphatemia and hypercalciuria improved in both homozygous individuals. Renal calcifications that are presumably due to increased urinary calcium excretion can be the presenting finding in homozygous carriers of G196R in SLC34A3/NaPi-IIc, and some or all laboratory features of HHRH may be masked by vitamin D deficiency.

Prospective evaluation of plasma levels of ANGPT2, TuM2PK, and VEGF in patients with renal cell carcinoma.

PubMed

Gayed, Bishoy A; Gillen, Jessica; Christie, Alana; Peña-Llopis, Samuel; Xie, Xian-Jin; Yan, Jingsheng; Karam, Jose A; Raj, Ganesh; Sagalowsky, Arthur I; Lotan, Yair; Margulis, Vitaly; Brugarolas, James

2015-04-03

To assess pathological correlations and temporal trends of Angiopoietin-2 (ANGPT2), vascular endothelial growth factor (VEGF) and M2 Pyruvate kinase (TuM2PK), markers of tumor vascular development and metabolism, in patients with renal cell carcinoma (RCC). We prospectively collected plasma samples from 89 patients who underwent surgical/ablative therapy for RCC and 38 patients with benign disease (nephrolithiasis, hematuria without apparent neoplastic origin, or renal cysts). In RCC patients, marker levels were compared between at least 1 preoperative and 1 postoperative time point generally 3 weeks after surgery. Marker temporal trends were assessed using the Wilcoxon sign-rank test. Plasma VEGF, ANGPT2, and TuM2PK levels were determined by ELISA and tested for association with pathological variables. Median age was comparable between groups. 83/89 (93%) of the cohort underwent surgical extirpation. 82% of the tumors were organ confined (T ≤ 2, N0). Only ANGPT2 exhibited significantly elevated preoperative levels in patients with RCC compared to benign disease (p = 0.046). Elevated preoperative levels of ANGPT2 and TuM2PK significantly correlated with increased tumor size and advanced grade (p < 0.05). Chromophobe RCC exhibited higher levels of ANGPT2 compared to other histologies (p < 0.05). A decline in marker level after surgery was not observed, likely due to the timing of the analyses. Our results suggest that ANGPT2 is a marker of RCC. Additionally, ANGPT2 and TuM2PK significantly correlated with several adverse pathological features. Further studies are needed to determine clinical applicability.

Undergraduate exposure to urology: impact of the distributed model of medical education in British Columbia.

PubMed

Hoag, Nathan A; Hamidizadeh, Reza; MacNeily, Andrew E

2013-01-01

With the increased development of distributed sites for medical education across Canada, it is imperative we ensure that the quality of education is comparable between the different campuses. Our objective was to assess medical student experience and comfort with common urologic clinical encounters and to determine whether any differences exist between the distributed education sites at the University of British Columbia (UBC). Questionnaires assessing urologic education were delivered simultaneously to all final-year UBC medical students attending campuses in Vancouver, Victoria and Prince George. Results were analyzed using descriptive statistics. Overall, 55.8% of students felt their exposure to urology was adequate in the medical curriculum; learners in the Northern Program (Prince George) ranked their clinical and didactic experiences significantly higher. Areas requiring improvement include teaching of the male genitourinary exam, digital rectal exam and sexual history, in which learners rated teaching "good/outstanding" in only 18.2%, 47.7% and 43.2% of cases, respectively. Overall, students were most comfortable with the following clinical encounters: urinary tract infection, nephrolithiasis, benign prostatic hyperplasia, hematuria, incontinence and prostate cancer. Few differences in student experience or comfort were noted related to campus site, gender or urology clerkship exposure. A significant minority of learners perceived that they had inadequate exposure to urology in the undergraduate curriculum. Experience in urology was comparable across the distributed sites and was congruent with teaching objectives. Students were comfortable with the clinical scenarios deemed most important in the literature. Learners in the Northern Program were significantly more satisfied with their urologic teaching, which potentially highlights the advantages of learning in a smaller academic setting.

Does diagnosis change as a result of repeat renal colic computed tomography scan in patients with a history of kidney stones?

PubMed

Goldstone, Adam; Bushnell, Andrew

2010-03-01

We sought to determine the incidence of alternative diagnosis in patients with a history of kidney stones who experience recurrent symptoms and undergo repeat computed tomography (CT) imaging at their return to the emergency department (ED). This was a retrospective chart review of ED patients at a tertiary care hospital. Inclusion criteria were all adult ED patients who received a repeat CT for renal colic, after having previously received the diagnosis of obstructive kidney stone confirmed by CT, in our ED. Patients were identified by reviewing the charts of those patients with repeat visits to the ED after January 1, 2004, in which they complained of symptoms suggestive of renal colic and received a CT scan. We determined the frequency of the same diagnosis on repeat CT scan in this population compared with the frequency of alternative diagnosis. Two hundred thirty-one patients met criteria for the study. Fifty-nine percent were male. One hundred eighty-nine (81.8%) patients had no change in diagnosis as a result of a repeat renal colic CT scan. Twenty-seven (11.6%) patients received an alternative diagnosis that did not require urgent intervention, and 15 (6.5%) patients received a diagnosis that did require an urgent intervention. Repeat CT imaging of patients with known nephrolithiasis changed management in a minority of patients (6.5%). Knowing the frequency of alternative diagnosis in this population may help clinicians and patients balance the risks and benefits of repeat renal colic CT scans in patients with a history of kidney stones who return to the ED with similar symptoms. 2010 Elsevier Inc. All rights reserved.

Dietary intake of fiber, fruit and vegetables decreases the risk of incident kidney stones in women: a Women's Health Initiative report.

PubMed

Sorensen, Mathew D; Hsi, Ryan S; Chi, Thomas; Shara, Nawar; Wactawski-Wende, Jean; Kahn, Arnold J; Wang, Hong; Hou, Lifang; Stoller, Marshall L

2014-12-01

We evaluated the relationship between dietary fiber, fruit and vegetable intake, and the risk of kidney stone formation. Overall 83,922 postmenopausal women from the Women's Health Initiative observational study were included in the analysis and followed prospectively. Cox proportional hazards regression analyses were used to evaluate the associations between total dietary fiber, fruit and vegetable intake, and the risk of incident kidney stone formation, adjusting for nephrolithiasis risk factors (age, race/ethnicity, geographic region, diabetes mellitus, calcium supplementation, hormone therapy use, body mass index and calibrated caloric intake; and dietary water, sodium, animal protein and calcium intake). Women with a history of kidney stones (3,471) were analyzed separately. Mean age of the women was 64±7 years, 85% were white and 2,937 (3.5%) experienced a kidney stone in a median followup of 8 years. In women with no history of kidney stones higher total dietary fiber (6% to 26% decreased risk, p <0.001), greater fruit intake (12% to 25% decreased risk, p <0.001) and greater vegetable intake (9% to 22% decreased risk, p=0.002) were associated with a decreased risk of incident kidney stone formation in separate adjusted models. In women with a history of stones there were no significant protective effects of fiber, fruit or vegetable intake on the risk of kidney stone recurrence. Greater dietary intake of fiber, fruits and vegetables was associated with a reduced risk of incident kidney stones in postmenopausal women. The protective effects were independent of other known risk factors for kidney stones. In contrast, there was no reduction in risk in women with a history of stones. Copyright © 2014 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Silent ureteral stones: impact on kidney function--can treatment of silent ureteral stones preserve kidney function?

PubMed

Marchini, Giovanni S; Vicentini, Fabio C; Mazzucchi, Eduardo; Brito, Arthur; Ebaid, Gustavo; Srougi, Miguel

2012-02-01

To report our experience with silent ureteral stones and expose their true influence on renal function. We analyzed 506 patients who had undergone ureterolithotripsy from January 2005 to May 2010. Silent ureteral stones were calculi found in the absence of any specific or subjective ureteral stone-related symptoms. Of the 506 patients, 27 (5.3%) met these criteria (global cohort). All patients were assessed postoperatively with dimercaptosuccinic acid scintigraphy (DMSA). A difference in relative kidney function of >10% was considered abnormal. Pre- and postoperative comparative DMSA analyses were electively obtained for 9 patients (kidney function cohort). A t test was used to assess the numeric variables, and the chi-square test or Fisher's exact test was used for categorical variables. Two-tailed P<.05 was considered statistically significant. Stones were diagnosed by radiologic abdominal evaluation for nonurologic diseases in 40% and after previous nephrolithiasis treatment in 33%. The primary therapy was ureterolithotripsy in 88%. The mean follow-up time was 23 months. The overall ureteral stone-free rate after 1 and 2 procedures was 96% and 100%, respectively. In the global cohort, the mean pre- and postoperative serum creatinine levels were similar (P=.39), and the mean postoperative function on DMSA was 31%. In the kidney function cohort, no difference was found between the pre- and postoperative DMSA findings (22%±12.1% vs 20%±11.8%; P=.83) and serum creatinine (0.8±0.13 mg/dL vs 1.0±0.21 mg/dL; P=.45). Silent ureteral stones are associated with decreased kidney function present at the diagnosis. Hydronephrosis tends to diminish after stone removal, and kidney function remains unaltered. Copyright © 2012 Elsevier Inc. All rights reserved.

In Idiopathic Calcium Oxalate Stone Formers, Unattached Stones Show Evidence of Having Originated as Attached Stones on Randall’s Plaque

PubMed Central

Miller, Nicole L.; Williams, James C.; Evan, Andrew P.; Bledsoe, Sharon B.; Coe, Fredric L.; Worcester, Elaine M.; Munch, Larry C.; Handa, Shelly E.; Lingeman, James E.

2009-01-01

Objective To analyze the structure and composition of unattached stones in idiopathic calcium oxalate stone formers (ICSF) and compare them to attached stones from the same cohort in order to investigate whether more than one pathogenic mechanism exists for stone formation in ICSF. Patients and methods ICSF undergoing percutaneous nephrolithotomy or ureteroscopy for treatment of nephrolithiasis were consented for this study. All accessible renal papillae were endoscopically imaged using a digital endoscope. All stones were removed and determined by the operating surgeon to be attached or unattached to the underlying papilla. Micro-computed tomography (micro-CT), which provides three-dimensional analysis of entire stones, was used to compare the structure and composition of attached versus unattached stones. Results Of 115 stones collected from 9 patients (12 renal units), only 25 stones were found not to be attached to renal papillae. Of these 25 stones, 4 were lost and 12 showed definite morphological evidence of having been attached to tissue, probably having been knocked off of papillae during access. For the remaining 9 stones, micro-CT analysis revealed at least one internal region of calcium phosphate within each of these unattached calcium oxalate (CaOx) stones. That is, the internal structure of the unattached stones is consistent with their having originated attached to RP, and then having become detached but retained in the kidney, with new layers of CaOx eventually covering the original attachment site. Conclusions Micro CT analysis supports the hypothesis that in ICSF, both attached and unattached stones occur as a result of a common pathogenic mechanism. That is, in this type of stone former, CaOx stones—even those not showing morphology that betrays attachment—all originate attached to interstitial plaque on the renal papilla. PMID:19549258

Risks of repeated visits for uninvestigated dyspepsia in three community hospitals of Khon Kaen, Thailand.

PubMed

Premgamone, Amorn; Maskasem, Srinoi; Thamrongwarangoon, Apisit; Ussavaphark, Wichai

2010-03-01

Uninvestigated dyspepsia (UD) is common and only 26.4% of these are peptic ulcer disease, while 50% are non-ulcer dyspepsia. A recent study found that nephrolithiasis with urinary tract infection may have the dyspeptic symptoms. The authors searched for any associations between repeated UD and pyuria, hematuria and other factors. A case-control study was performed. It consisted of 489 patients with repeated UD who had visited community hospitals for at least two times per year and 489 controls sampled from the data of the subjects, free of dyspeptic symptoms, from the multi-stage random survey for subjective health complaints in the same province. Multivariate logistic regression models were used for case-control comparisons. By logistic regression analysis, UD was significantly associated with problems caused by purine-rich foods (PRFs), chronic fatigue, flank paresthesia, hematuria, myofascial pain, and pyuria. The respective adjusted odds ratios and 95% confidence interval (CI) were: 6.67 (4.58, 9.68), 5.06 (3.46, 7.40), 3.98 (2.41, 6.60), 2.97 (2.01, 4.38), 1.91 (1.32, 2.76) and 1.58 (1.01, 2.45). The variables of age (> 48), sex, dysuria, poly-arthralgia, headache and back pain were not significantly associated with UD. The foods that aggravated UD were bamboo shoots, fermented rice noodles, beef alcohol and insects. The rate of pyuria and hematuria was significantly increased with the number of visits within a year [p-value (Chi-square for trend), 0.015 and 0.032]. These findings indicate that pyuria, hematuria, and purine-rich foods were associated with repeated hospital visits for dyspepsia.

How valid is the prenatal estrogen excess hypothesis of testicular germ cell cancer? A case control study on hormone-related factors.

PubMed

Dieckmann, K P; Endsin, G; Pichlmeier, U

2001-12-01

The prenatal estrogen excess hypothesis postulates abnormally high estrogen levels during pregnancy which predispose the developing gonad to testicular germ cell cancer (GCT) in adulthood. As no direct measurements are possible to support this hypothesis, evidence must come from clinical and epidemiological observations. The present study looked to surrogate parameters that purportedly point to high estrogenic influence in utero. In a case-control study design, 418 cases with GCT were compared to 636 controls having fractures, injuries or nephrolithiasis. A second comparison was done with 120 men suffering from malignant melanoma. The following factors were investigated: maternal and paternal age at birth of proband, birth-order, distribution of brothers and sisters in sibs of patients, sibship size, status of being a twin, status of being a singleton child, handedness, and frequency of breast cancer in mothers and sisters. Status of being a twin was significantly associated with GCT risk (OR 2.41; 95% CI 1.04- 5.63) if compared to men with fractures or stones. Comparison with melanoma controls showed only a nonsignificant trend. Frequency of breast cancer was insignificantly higher in mothers of GCT patients. Maternal age above 30 years was associated with decreased risk of GCT, which is contradictory to the hypothesis. No other parameter was significantly different in cases and controls. The present investigation failed to produce evidence for the estrogen excess hypothesis. Obviously, the parameters tested are only weak indicators of estrogenic influence during embryogenesis. Thus, the sample size and statistical power of the trial might have been too low to show any significant association. But, assessing the negative results of this study in light of equally negative results in previous investigations, the estrogen excess hypothesis still remains to be hypothetic.

Sex Difference in the Clinical Presentation of Primary Hyperparathyroidism: Influence of Menopausal Status.

PubMed

Castellano, Elena; Attanasio, Roberto; Boriano, Alberto; Pellegrino, Micaela; Garino, Francesca; Gianotti, Laura; Borretta, Giorgio

2017-11-01

Female-to-male ratio in primary hyperparathyroidism (PHPT) is 3:1, but data on sex impact on the clinical presentation are limited. We evaluated, retrospectively, sex difference in biochemistry and clinical presentation at diagnosis in a monocentric series of 417 patients with PHPT: 93 men (58.6 ± 14.5 years), and 324 women (61.7 ± 12.8 years), of whom 54 were premenopausal (pre-F) and 270 postmenopausal (post-F). Men were significantly younger (P = 0.046) and more frequently symptomatic than women (62.3% vs 47%, P = 0.016). No sex difference was found in serum parathyroid hormone, calcium, creatinine, 25-hydroxy-vitamin D, and urinary calcium levels, whereas serum phosphate was higher in women. Nephrolithiasis (detected by imaging or history of passing stones) was more frequent in men (50.5% vs 33% in women, P = 0.003) and osteoporosis (T-score <-2.5 at any site) was more frequent in women (52.2% vs 35.5% in men, P = 0.0066). Symptomatic patients were 43.3%, 64.8%, and 62.3% in post-F women, pre-F women, and men, respectively. Kidney stones were less frequent and osteoporosis more frequent in post-F women than in pre-F women (28.1% vs 59.2% and 58.9% vs 18.5%, respectively). After combining symptomatic and asymptomatic patients meeting surgical criteria recommended by current guidelines, no sex difference was observed in the proportion of patients to be referred for surgery (84.6% in men vs 84.9% in women). Biochemical activity of PHPT seems to be independent of sex, but clinical presentation is different, mostly due to menopausal state. However, surgical referral was indicated equally in men and women. Copyright © 2017 Endocrine Society

Estimation of the oxalate content of foods and daily oxalate intake

NASA Technical Reports Server (NTRS)

Holmes, R. P.; Kennedy, M.

2000-01-01

BACKGROUND: The amount of oxalate ingested may be an important risk factor in the development of idiopathic calcium oxalate nephrolithiasis. Reliable food tables listing the oxalate content of foods are currently not available. The aim of this research was to develop an accurate and reliable method to measure the food content of oxalate. METHODS: Capillary electrophoresis (CE) and ion chromatography (IC) were compared as direct techniques for the estimation of the oxalate content of foods. Foods were thoroughly homogenized in acid, heat extracted, and clarified by centrifugation and filtration before dilution in water for analysis. Five individuals consuming self-selected diets maintained food records for three days to determine their mean daily oxalate intakes. RESULTS: Both techniques were capable of adequately measuring the oxalate in foods with a significant oxalate content. With foods of very low oxalate content (<1.8 mg/100 g), IC was more reliable than CE. The mean daily intake of oxalate by the five individuals tested was 152 +/- 83 mg, ranging from 44 to 352 mg/day. CONCLUSIONS: CE appears to be the method of choice over IC for estimating the oxalate content of foods with a medium (>10 mg/100 g) to high oxalate content due to a faster analysis time and lower running costs, whereas IC may be better suited for the analysis of foods with a low oxalate content. Accurate estimates of the oxalate content of foods should permit the role of dietary oxalate in urinary oxalate excretion and stone formation to be clarified. Other factors, apart from the amount of oxalate ingested, appear to exert a major influence over the amount of oxalate excreted in the urine.

MRP-1 and BCRP Promote the Externalization of Phosphatidylserine in Oxalate-treated Renal Epithelial Cells: Implications for Calcium Oxalate Urolithiasis.

PubMed

Li, YiFu; Yu, ShiLiang; Gan, XiuGuo; Zhang, Ze; Wang, Yan; Wang, YingWei; An, RuiHua

2017-09-01

To investigate the possible involvement of multidrug resistance-associated protein 1 (MRP-1) and breast cancer resistance protein (BCRP) in the oxalate-induced redistribution of phosphatidylserine (PS) in renal epithelial cell membranes. A western blot analysis was used to examine the MRP-1 and BCRP expression levels. Surface-expressed PS was detected by the annexin V-binding assay. The cell-permeable fluorogenic probe 2,7-dichlorofluorescein diacetate was used to measure the intracellular reactive oxygen species (ROS) level. A rat model of hyperoxaluria was obtained using 0.5% ethylene glycol and 1.0% ammonium chloride. In addition, certain animals received verapamil (50 mg/kg body weight), which is a common inhibitor of MRP-1 and BCRP. The degree of nephrolithiasis was assessed histomorphometrically using sections stained by Pizzolato method and by measuring the calcium oxalate crystal content in the renal tissue. Oxalate produced a concentration-dependent increase in the synthesis of MRP-1 and BCRP. Treatment with MK571 and Ko143 (MRP-1- and BCRP-specific inhibitors, respectively) significantly attenuated the oxalate-induced PS externalization. Adding the antioxidant N-acetyl-l-cysteine significantly reduced MRP-1 and BCRP expression. In vivo, markedly decreased nephrocalcinosis was observed compared with that in the rat model of hyperoxaluria without verapamil treatment. Oxalate induces the upregulation of MRP-1 and BCRP, which act as phospholipid floppases causing PS externalization in the renal epithelial cell membrane. The process is mediated by intracellular ROS production. The ROS-mediated increase in the synthesis of MRP-1 and BCRP can play an important role in hyperoxaluria-promoted calcium oxalate urolithiasis by facilitating phosphatidylserine redistribution in renal epithelial cells. Copyright © 2017 Elsevier Inc. All rights reserved.

Identification of a novel AGXT gene mutation in primary hyperoxaluria after kidney transplantation failure.

PubMed

M'dimegh, Saoussen; Omezzine, Asma; Hamida-Rebai, Mériam Ben; Aquaviva-Bourdain, Cécile; M'barek, Ibtihel; Sahtout, Wissal; Zellama, Dorsaf; Souche, Geneviéve; Achour, Abdellatif; Abroug, Saoussen; Bouslama, Ali

2016-11-01

Primary hyperoxaluria is a genetic disorder in glyoxylate metabolism that leads to systemic overproduction of oxalate. Functional deficiency of alanine-glyoxylate aminotransferase in this disease leads to recurrent nephrolithiasis, nephrocalcinosis, systemic oxalosis, and kidney failure. The aim of this study was to determine the molecular etiology of kidney transplant loss in a young Tunisian individual. We present a young man with end-stage renal disease who received a kidney allograft and experienced early graft failure. There were no improvement in kidney function; he required hemodialysis and graft biopsy revealed calcium oxalate crystals, which raised suspicion of primary hyperoxaluria. Genetic study in the AGXT gene by PCR direct sequencing identified three missense changes in heterozygote state: the p. Gly190Arg mutation next to two other novels not previously described. The classification of the deleterious effect of the missense changes was developed using the summered results of four different mutation assessment algorithms, SIFT, PolyPhen, Mutation Taster, and Align-GVGD. This system classified the changes as polymorphism in one and as mutation in other. The patient was compound heterozygous mutations. Structural analysis showed that the novel mutation, p.Pro28Ser mutation, affects near the dimerization interface of AGT and positioned on binding site instead of the inhibitor, amino-oxyacetic acid (AOA). With the novel AGXT mutation, the mutational spectrum of this gene continues to broaden in our population. The diagnosis of PH1 was not recognized until after renal transplant with fatal consequences, which led us to confirm the importance of screening before planning for kidney transplantation in population with a relatively high frequency of AGXT mutation carriers. Copyright © 2016 Elsevier B.V. All rights reserved.

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

PubMed

Font, M A; Feliubadaló, L; Estivill, X; Nunes, V; Golomb, E; Kreiss, Y; Pras, E; Bisceglia, L; d'Adamo, A P; Zelante, L; Gasparini, P; Bassi, M T; George , A L; Manzoni, M; Riboni, M; Ballabio, A; Borsani, G; Reig, N; Fernández, E; Zorzano, A; Bertran, J; Palacín, M

2001-02-15

Cystinuria (OMIM 220100) is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in nephrolithiasis of cystine. Mutations in SLC3A1, which encodes rBAT, cause Type I cystinuria, and mutations in SLC7A9, which encodes a putative subunit of rBAT (b(o,+)AT), cause non-Type I cystinuria. Here we describe the genomic structure of SLC7A9 (13 exons) and 28 new mutations in this gene that, together with the seven previously reported, explain 79% of the alleles in 61 non-Type I cystinuria patients. These data demonstrate that SLC7A9 is the main non-Type I cystinuria gene. Mutations G105R, V170M, A182T and R333W are the most frequent SLC7A9 missense mutations found. Among heterozygotes carrying these mutations, A182T heterozygotes showed the lowest urinary excretion values of cystine and dibasic amino acids. Functional analysis of mutation A182T after co-expression with rBAT in HeLa cells revealed significant residual transport activity. In contrast, mutations G105R, V170M and R333W are associated to a complete or almost complete loss of transport activity, leading to a more severe urinary phenotype in heterozygotes. SLC7A9 mutations located in the putative transmembrane domains of b(o,+)AT and affecting conserved amino acid residues with a small side chain generate a severe phenotype, while mutations in non-conserved residues give rise to a mild phenotype. These data provide the first genotype-phenotype correlation in non-Type I cystinuria, and show that a mild urinary phenotype in heterozygotes may associate with mutations with significant residual transport activity.

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

PubMed Central

Arenas-Hernandez, Monica; Escuredo, Emilia; Fairbanks, Lynette; Marinaki, Tony; Mapplebeck, Sarah; Sheaff, Michael; Almond, Michael K.

2016-01-01

Background Adenine phosphoribosyltransferase deficiency is an inborn error of metabolism that can cause kidney disease from crystalline nephropathy or kidney stones. Methods We present three cases from a single centre with varied presentations to illustrate how increasing awareness led to better patient identification. We then undertook a cross-sectional survey of all the patients identified from the Purine Research Laboratory in the UK since 1974. Results Our index case presented with recurrent nephrolithiasis and was diagnosed on stone analysis, the second case presented with acute kidney injury and the third case was identified from a biopsy undertaken for acute on chronic kidney injury. Genetic studies identified two novel mutations. Twenty patients were retrospectively identified. The mean age at diagnosis was 25 years (range 2–70); eight were <20 years, seven were 20–40 years and five were >40 years. Five of the 20 patients were deceased, 3 after end-stage renal disease (ESRD). Twelve have normal renal function, one had CKD stage 3, one had severe kidney disease and one was on dialysis. Conclusions Adenine phosphoribosyltransferase deficiency presents in a wide spectrum in all age groups. Patients can be completely asymptomatic and kidney disease may be incorrectly attributed to other conditions. Outcome is poor in late diagnosis and there is a high prevalence of ESRD. Patients with unexplained renal stone disease or deterioration in kidney function should be considered for screening. Identification and surveillance of patients in the UK can improve. There is now a rare disease registry with meetings organized that include patients, families and health care providers to improve awareness. PMID:27994857

Thiazides diuretics in the treatment of nephrolithiasis: are we using them in an evidence-based fashion?

PubMed

Vigen, Rebecca; Weideman, Rick A; Reilly, Robert F

2011-09-01

In the 1980s a change occurred in hydrochlorothiazide prescribing practices for hypertension from high-dose (50 mg/day) to low-dose (12.5-25 mg/day) therapy. However, randomized controlled trials (RCT) for prevention of calcium-containing kidney stones (CCKS) employed only high doses (≥ 50 mg/day). We hypothesized that these practices have resulted in underdosing of hydrochlorothiazide for prevention of CCKS. Patients with a filled prescription for thiazide diuretics that underwent a 24-h urine stone risk factor analysis were eligible. Those with evidence that thiazide was prescribed for CCKS were further analyzed. Of 107 patients, 102 were treated with hydrochlorothiazide, 4 with indapamide, and one with chlorthalidone. Only 35% of hydrochlorothiazide-treated patients received 50 mg/day; a dose previously shown to reduce stone recurrence. Fifty-two percent were prescribed 25 mg and 13% 12.5 mg daily, doses that were not studied in RCT. Evidence-based hydrochlorothiazide use was suboptimal regardless of where the patient received care (Nephrology or Endocrinology clinic). In a small subset of patients (n = 6) with 24-h urinary calcium excretion measured at baseline and after 2 hydrochlorothiazide doses (25 and ≥ 50 mg), there was a trend toward decreased urinary calcium excretion as the dose was increased from 25 to ≥ 50 mg/day (p = 0.051). Low-dose hydrochlorothiazide was often used for prevention of CCKS despite the fact that there is no evidence that it is effective in this setting. This may have resulted from a practice pattern of using lower doses for hypertension therapy or a lack of knowledge of RCT results in treatment of CCKS.

Complicated pregnancies in inherited distal renal tubular acidosis: importance of acid-base balance.

PubMed

Seeger, Harald; Salfeld, Peter; Eisel, Rüdiger; Wagner, Carsten A; Mohebbi, Nilufar

2017-06-01

Inherited distal renal tubular acidosis (dRTA) is caused by impaired urinary acid excretion resulting in hyperchloremic metabolic acidosis. Although the glomerular filtration rate (GFR) is usually preserved, and hypertension and overt proteinuria are absent, it has to be considered that patients with dRTA also suffer from chronic kidney disease (CKD) with an increased risk for adverse pregnancy-related outcomes. Typical complications of dRTA include severe hypokalemia leading to cardiac arrhythmias and paralysis, nephrolithiasis and nephrocalcinosis. Several physiologic changes occur in normal pregnancy including alterations in acid-base and electrolyte homeostasis as well as in GFR. However, data on pregnancy in women with inherited dRTA are scarce. We report the course of pregnancy in three women with hereditary dRTA. Complications observed were severe metabolic acidosis, profound hypokalemia aggravated by hyperemesis gravidarum, recurrent urinary tract infection (UTI) and ureteric obstruction leading to renal failure. However, the outcome of all five pregnancies (1 pregnancy each for mothers n. 1 and 2; 3 pregnancies for mother n. 3) was excellent due to timely interventions. Our findings highlight the importance of close nephrologic monitoring of women with inherited dRTA during pregnancy. In addition to routine assessment of creatinine and proteinuria, caregivers should especially focus on acid-base status, plasma potassium and urinary tract infections. Patients should be screened for renal obstruction in the case of typical symptoms, UTI or renal failure. Furthermore, genetic identification of the underlying mutation may (a) support early nephrologic referral during pregnancy and a better management of the affected woman, and (b) help to avoid delayed diagnosis and reduce complications in affected newborns.

Therapeutic effects of aqueous extracts of Petroselinum sativum on ethylene glycol-induced kidney calculi in rats.

PubMed

Saeidi, Jafar; Bozorgi, Hadi; Zendehdel, Ahmad; Mehrzad, Jamshid

2012-01-01

To investigate the therapeutic effects of the aqueous extract of Petroselinum Sativum aerial parts and roots on kidney calculi. Thirty-six male Wistar rats were randomly assigned into 6 groups and treated for 30 days. Group A served as normal control and group B received 1% ethylene glycol in drinking water. Groups C, D, E, and F received 1% ethylene glycol from day 0 and were used as the treatment subjects. Rats in groups C and D received 200 and 600 mg/kg body weight of aerial parts aqueous extract, respectively, and those in groups E and F received 200 and 600 mg/kg body weight of root aqueous extract in drinking water, respectively, from the 14th day of the experiment. On the 14th and 30th days of the experiment, serum level of magnesium (1.71 ± 0.12 and 3.81 ± 0.25, respectively) decreased significantly while serum level of calcium (10.45 ± 0.26 and 11.33 ± 0.18, respectively) increased significantly in group B compared with the control group (14th day: magnesium = 2.87 ± 0.17 and calcium = 8.80 ± 0.00 and 30th day: magnesium = 6.01 ± 0.00 and calcium = 8.30 ± 0.22; P < .001). In the treatment groups of C, D, E, and F, the number of deposits decreased significantly compared with group B on the 30th day (P < .001). The weight of the kidneys increased significantly in group B (2.01 ± 0.17) compared with the control group (1.52 ± 0.07) and decreased significantly in treatment groups (P < .05). Petroselinum Sativum has a therapeutic effect on calcium oxalate stones in rats with nephrolithiasis and reduces the number of calcium oxalate deposits.

Simultaneous Bilateral Ureteral Calculi: A New Paradigm for Management.

PubMed

Scotland, Kymora B; Hubosky, Scott G; Tanimoto, Ryuta; Cooper, Robert; Healy, Kelly A; Bagley, Demetrius H

2018-05-21

To define the need for emergent intervention between patients with simultaneous bilateral ureteral calculi (SBUC) compared to unilateral ureteral calculi (UUC). Patients with SBUC represent a potential urological emergency due to possible anuria or electrolyte imbalance. While conventional practice mandates immediate intervention in these patients, little data exist to define the rate of these events. Records of all patients with ureteral stones treated ureteroscopically over an 11-year period were reviewed to identify those with SBUC. Patient presenting characteristics, time from diagnosis to intervention, and postoperative outcomes were noted. To determine the need for emergent intervention, we compared metabolic and infectious parameters between SBUC patients and age- and sex-matched patients with UUC. A total of 3800 patients presented with ureteral calculi including 42 (1.1%) with SBUC. Two-thirds of patients with SBUC had an established diagnosis of nephrolithiasis. Among the 42 patients with SBUC, 11 (26.2%) were considered emergent due to metabolic (5 of 11, 45.5%), infectious (1 of 11, 9.1%), or both metabolic and infectious indications (5 of 11, 45.5%). No patients required acute dialysis before surgical intervention. Compared to patients with UUC, those with SBUC were significantly more likely to require emergent management (P = .03, odds ratio 2.3). Univariate and multivariate analyses showed this to be due to anuria (P = .001) and acidosis (P = .003). SBUC is an uncommon condition and, in this series, only the minority of patients presented emergently. Therefore, patients with SBUC can often be managed electively if counseled on clinical signs warranting emergent medical attention. Appropriately selected patients have excellent outcomes following single stage bilateral ureteroscopy. Copyright © 2018. Published by Elsevier Inc.

Urate-Lowering Agents in Asymptomatic Hyperuricemia: Role of Urine Sediment Analysis and Musculoskeletal Ultrasound.

PubMed

Viggiano, Davide; Gigliotti, Giuseppe; Vallone, Gianfranco; Giammarino, Anna; Nigro, Michelangelo; Capasso, Giovambattista

2018-01-01

Current urate-lowering therapy (ULT) includes three direct acting drugs (allopurinol, febuxostat, Rasburicase) and at least four 'indirect' drugs with other important targets (canagliflozin, losartan, fenofibrate and sevelamer). Moreover, the alcalinization of urines using bicarbonate can be used to dissolve urate crystals and the clinician may discontinue several drugs are known to increase serum levels of uric acid, such as diuretics, aspirin, cyclosporine, theophylline, mycophenolate and ACE inhibitors. While there is a consensus to start ULT in cases of symptomatic hyperuricemia (gout, urate-nephrolithiasis), the very frequent conditions of asymptomatic hyperuricemia remains a major conundrum. The effect of asymptomatic hyperuricemia on kidney function has had fluctuating positions over decades. The conflicting results might indicate: (i) the presence of counterbalancing positive and negative effects on kidney function of both serum uric acid and urate-lowering agents, (ii) the presence of a subpopulation of patients, as yet unidentified, which could truly benefit from a urate-lowering therapy. Therefore, today the treatment of asymptomatic hyperuricemia is not recommended nor excluded by current guidelines. Here we suggest that a possible guide for the treatment of asymptomatic hyperuricemia might be the presence of urate crystals in the urine sediment and/or signs of asymptomatic articular damage by urates, identified by musculo-skeletal ultrasound. Moreover, a watchful analysis of the trend in creatinine/eGFR, proteinuria or urate levels might also guide the clinician. Initiation of ULT and follow-up in cases of asymptomatic hyperuricemia should consider urine sediment analysis, musculoskeletal ultrasound and trends in creatinine, proteinuria and serum urate levels. © 2018 The Author(s). Published by S. Karger AG, Basel.

Safety and feasibility of day case ureteroscopy and laser lithotripsy (URSL) in patients with a solitary kidney

PubMed Central

Ghosh, Anngona

2016-01-01

Introduction The management of nephrolithiasis in patients with a solitary kidney poses a treatment challenge. The study aimed to evaluate the outcomes of ureteroscopy and laser stone fragmentation (URSL) for renal stones in these patients treated in our university teaching hospital. Material and methods Between July 2012 and December 2014, seventeen cases of URSL for stones in a solitary kidney were reviewed. Patient demographics, stone dimensions, perioperative and post-operative outcomes were recorded in a prospectively maintained database. Serum creatinine levels pre-procedure and at follow-up were also compared. Results Seventeen cases of URSL were conducted with a mean age of 52.9 ±19.9 years. 8 of the 17 (47%) patients had stones in multiple locations and 13 (76%) were in the lower pole. The mean ± SD stone size and BMI were 13.0 ±8.9 mm and 31.6 ±5.8 kg/m2, respectively. The stone free rate (SFR) was 82.5%. Fourteen (82.5%) patients were discharged the same day and 16 cases (94%) were discharged within 24 hours. For patients with deranged pre-operative serum creatinine, the mean serum creatinine level improved from 131.2 ±68.3 µmol/L pre-URSL to 106.5 ±36.7 µmol/L at follow-up. There was one Clavien grade II complication with a patient requiring additional antibiotics for post-operative urinary tract infection. There were no other major or minor complications. Conclusions Day case ureteroscopy for stone disease in a solitary kidney is safe and feasible with a low complication rate and an overall improvement in renal function. PMID:27123333

A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density.

PubMed

Coleman, M P; Németh, A H; Campbell, L; Raut, C P; Weissenbach, J; Davies, K E

1994-05-15

The genes ARAF1, SYN1, TIMP, and PFC are clustered within 70 kb of one another, and, as reported in the accompanying paper (J. Knight et al., 1994, Genomics 21: 180-187), at least four more genes map within 400 kb: a cluster of Krüppel-type zinc finger genes (including ZNF21, ZNF41, and ZNF81) and ELK-1, a member of the ets oncogene superfamily. This gene-rich region is of particular interest because of the large number of disease genes mapping to Xp11.23: at least three eye diseases (retinitis pigmentosa type 2, congenital stationary night blindness CSNB1, and Aland Island eye disease), Wiskott-Aldrich syndrome, X-linked nephrolithiasis, and a translocation breakpoint associated with synovial sarcoma. We have constructed a 1.8-Mb YAC contig in this region, confirming the link between TIMP and OATL1 reported by Knight et al. (1994) and extending the map in the distal direction. To investigate the likelihood that more genes are located within this region, we have carried out detailed mapping of rare-cutter restriction sites in these YACs and identified seven CpG islands. At least six of these islands are located over 50 kb from any known gene locations, suggesting that the region contains at least this many as yet unidentified genes. We have also mapped the physical locations of six highly polymorphic CA repeats within the contig, thus integrating the physical, genetic, and transcriptional maps of the region and facilitating the mapping and identification of disease genes.(ABSTRACT TRUNCATED AT 250 WORDS)

Elevated Vitamin D Receptor Levels in Genetic Hypercalciuric Stone-Forming Rats Are Associated With Downregulation of Snail

PubMed Central

Bai, Shaochun; Wang, Hongwei; Shen, Jikun; Zhou, Randal; Bushinsky, David A; Favus, Murray J

2010-01-01

Patients with idiopathic hypercalciuria (IH) and genetic hypercalciuric stone-forming (GHS) rats, an animal model of IH, are both characterized by normal serum Ca, hypercalciuria, Ca nephrolithiasis, reduced renal Ca reabsorption, and increased bone resorption. Serum 1,25-dihydroxyvitamin D [1,25(OH)2D] levels are elevated or normal in IH and are normal in GHS rats. In GHS rats, vitamin D receptor (VDR) protein levels are elevated in intestinal, kidney, and bone cells, and in IH, peripheral blood monocyte VDR levels are high. The high VDR is thought to amplify the target-tissue actions of normal circulating 1,25(OH)2D levels to increase Ca transport. The aim of this study was to elucidate the molecular mechanisms whereby Snail may contribute to the high VDR levels in GHS rats. In the study, Snail gene expression and protein levels were lower in GHS rat tissues and inversely correlated with VDR gene expression and protein levels in intestine and kidney cells. In human kidney and colon cell lines, ChIP assays revealed endogenous Snail binding close to specific E-box sequences within the human VDR promoter region, whereas only one E-box specifically bound Snail in the rat promoter. Snail binding to rat VDR promoter E-box regions was reduced in GHS compared with normal control intestine and was accompanied by hyperacetylation of histone H3. These results provide evidence that elevated VDR in GHS rats likely occurs because of derepression resulting from reduced Snail binding to the VDR promoter and hyperacetylation of histone H3. © 2010 American Society for Bone and Mineral Research. PMID:19929616

Serum paraoxonase-1 gene polymorphism and enzyme activity in patients with urolithiasis.

PubMed

Atar, Arda; Gedikbasi, Asuman; Sonmezay, Erkan; Kiraz, Zeynep Kusku; Abbasoglu, Semra; Tasci, Ali Ihsan; Tugcu, Volkan

2016-01-01

Paraoxonase-1 (PON1) is a high-density lipoprotein-associated enzyme implicated in the pathogenesis of atherosclerosis by protecting lipoproteins against peroxidation. PON1 has two genetic polymorphisms both due to amino acid substitution, one involving glutamine and arginine at position 192 and the other leucine and methionine at position 55. Recent reports suggest that nephrolithiasis and atherosclerosis share a number of risk factors. Our study aimed to compare the effects of PON1 192, PON1 55 polymorphisms, and PON1 activity in patients with urolithiasis and controls. PON1's arylesterase/paraoxonase activities and phenotype were determined in 158 stone forming cases (Group 1) and 138 non-stone forming controls (Group 2). The PON1 192 and PON1 55 polymorphisms were studied by polymerase chain reaction/restriction fragment length polymorphism. Paraoxonase activity was significantly lower in Group 1 than Group 2 (112 ± 31.8 vs. 208 ± 53.1 IU/L) (p < 0.001). The PON1 L55M polymorphism was significantly higher in Group 1. The "M" allele coding for PON1 was higher in Group 1 (p < 0.001). PON1 192 RR homozygotes had significantly higher PON1 activity than QR and QQ genotypes among all the patients (p < 0.001). The results of our study demonstrate that the PON1 55 gene "M" allele is associated with renal stone disease. Individuals possessing the "M" allele have a higher incidence of urolithiasis. The results of this study provide genetic evidence that the PON1 gene may play a role in stone formation. PON1 genotype determination may provide a tool to identify individuals who are at risk of urolithiasis.

Contemporary surgical trends in the management of upper tract calculi.

PubMed

Oberlin, Daniel T; Flum, Andrew S; Bachrach, Laurie; Matulewicz, Richard S; Flury, Sarah C

2015-03-01

Upper tract nephrolithiasis is a common surgical condition that is treated with multiple surgical techniques, including shock wave lithotripsy, ureteroscopy and percutaneous nephrolithotomy. We analyzed case logs submitted to the ABU by candidates for initial certification and recertification to help elucidate the trends in management of upper tract urinary calculi. Annualized case logs from 2003 to 2012 were analyzed. We used logistic regression models to assess how surgeon specific attributes affected the way that upper tract stones were treated. Cases were identified by the CPT code of the corresponding procedure. A total of 6,620 urologists in 3 certification groups recorded case logs, including 2,275 for initial certification, 2,381 for first recertification and 1,964 for second recertification. A total of 441,162 procedures were logged, of which 54.2% were ureteroscopy, 41.3% were shock wave lithotripsy and 4.5% were percutaneous nephrolithotomy. From 2003 to 2013 there was an increase in ureteroscopy from 40.9% to 59.6% and a corresponding decrease in shock wave lithotripsy from 54% to 36.3%. For new urologists ureteroscopy increased from 47.6% to 70.9% of all stones cases logged and for senior clinicians ureteroscopy increased from 40% to 55%. Endourologists performed a significantly higher proportion of percutaneous nephrolithotomies than nonendourologists (10.6% vs 3.69%, p <0.0001) and a significantly smaller proportion of shock wave lithotripsies (34.2% vs 42.2%, p = 0.001). Junior and senior clinicians showed a dramatic adoption of endoscopic techniques. Treatment of upper tract calculi is an evolving field and provider specific attributes affect how these stones are treated. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Effect of grapefruit juice on urinary lithogenicity.

PubMed

Goldfarb, D S; Asplin, J R

2001-07-01

An increased risk of nephrolithiasis has been associated with the ingestion of grapefruit juice in epidemiological studies. To our knowledge the basis of this effect of grapefruit juice has not been studied previously. We studied the effect of grapefruit juice consumption on urinary chemistry and measures of lithogenicity. Ten healthy men and women between ages of 25 and 40 years participated. Each subject drank 240 ml. of tap water at least 3 times daily for 7 days during the control period. This period was followed by a second 7 days experimental period during which they drank 240 ml. of grapefruit juice 3 times daily. In each 7-day period urine was collected for 24 hours during the last 3 days. Urine chemical analysis was performed, supersaturations of calcium oxalate, calcium phosphate and uric acid were calculated and urinary lithogenicity was measured. Urine volume and creatinine excretion were the same during the control and experimental periods. Grapefruit juice ingestion was associated with an increase in mean oxalate excretion plus or minus standard deviation of 41.1 +/- 9.2 to 51.9 +/- 12.0 mg. per 24 hours (p = 0.001) and in mean citrate excretion of 504.8 +/- 226.5 to 591.4 +/- 220.0 mg. per 24 hours (p = 0.01). There was no net change in the supersaturation or upper limit of metastability of calcium oxalate, calcium phosphate or uric acid. Crystal aggregation and growth inhibition by urinary macromolecules was not affected by grapefruit juice ingestion. Offsetting changes in urine chemistry caused by the ingestion of grapefruit juice led to no net change in calculated supersaturation. No changes in lithogenicity were demonstrated. The results do not demonstrate an effect of grapefruit juice for increasing lithogenicity. The basis of the observations of epidemiological studies remain unexplained.

Addition of Sodium Bicarbonate to Irrigation Solution May Assist in Dissolution of Uric Acid Fragments During Ureteroscopy.

PubMed

Paonessa, Jessica E; Williams, James C; Lingeman, James E

2018-04-01

We hypothesized that adding sodium bicarbonate (bicarb) to normal saline (NS) irrigation during ureteroscopy in patients with uric acid (UA) nephrolithiasis may assist in dissolving small stone fragments produced during laser lithotripsy. In vitro testing was performed to determine whether dissolution of UA fragments could be accomplished within 1 hour. In total 100% UA renal calculi were fragmented, filtered, and separated by size. Fragment sizes were <0.5 mm and 0.5 to 1 mm. Similar amounts of stone material were agitated in solution at room temperature. Four solutions were tested (NS, NS +1 ampule bicarb/L, NS +2, NS +3). Both groups were filtered to remove solutions after fixed periods. Filtered specimens were dried and weighed. Fragment dissolution rates were calculated as percent removed per hour. Additional testing was performed to determine whether increasing the temperature of solution affected dissolution rates. For fragments <0.5 mm, adding 2 or 3 bicarb ampules/L NS produced a dissolution rate averaging 91% ± 29% per hour. This rate averaged 226% faster than NS alone. With fragments 0.5 to 1 mm, addition of 2 or 3 bicarb ampules/L NS yielded a dissolution rate averaging 22% ± 7% per hour, which was nearly five times higher than NS alone. There was a trend for an increase in mean dissolution rate with higher temperature but this increase was not significant (p = 0.30). The addition of bicarbonate to NS more than doubles the dissolution rate of UA stone fragments and fragments less than 0.5 mm can be completely dissolved within 1 hour. Addition of bicarb to NS irrigation is a simple and inexpensive approach that may assist in the dissolution of UA fragments produced during ureteroscopic laser lithotripsy. Further studies are needed to determine whether a clinical benefit exists.

Genome Wide Analysis of Differentially Expressed Genes in HK-2 Cells, a Line of Human Kidney Epithelial Cells in Response to Oxalate

PubMed Central

Koul, Sweaty; Khandrika, Lakshmipathi; Meacham, Randall B.; Koul, Hari K.

2012-01-01

Nephrolithiasis is a multi-factorial disease which, in the majority of cases, involves the renal deposition of calcium oxalate. Oxalate is a metabolic end product excreted primarily by the kidney. Previous studies have shown that elevated levels of oxalate are detrimental to the renal epithelial cells; however, oxalate renal epithelial cell interactions are not completely understood. In this study, we utilized an unbiased approach of gene expression profiling using Affymetrix HG_U133_plus2 gene chips to understand the global gene expression changes in human renal epithelial cells [HK-2] after exposure to oxalate. We analyzed the expression of 47,000 transcripts and variants, including 38,500 well characterized human genes, in the HK2 cells after 4 hours and 24 hours of oxalate exposure. Gene expression was compared among replicates as per the Affymetrix statistical program. Gene expression among various groups was compared using various analytical tools, and differentially expressed genes were classified according to the Gene Ontology Functional Category. The results from this study show that oxalate exposure induces significant expression changes in many genes. We show for the first time that oxalate exposure induces as well as shuts off genes differentially. We found 750 up-regulated and 2276 down-regulated genes which have not been reported before. Our results also show that renal cells exposed to oxalate results in the regulation of genes that are associated with specific molecular function, biological processes, and other cellular components. In addition we have identified a set of 20 genes that is differentially regulated by oxalate irrespective of duration of exposure and may be useful in monitoring oxalate nephrotoxicity. Taken together our studies profile global gene expression changes and provide a unique insight into oxalate renal cell interactions and oxalate nephrotoxicity. PMID:23028475

Rationale and Design of the Vitamin D and Type 2 Diabetes (D2d) Study: A Diabetes Prevention Trial

PubMed Central

Pittas, Anastassios G.; Dawson-Hughes, Bess; Rosen, Clifford J.; Ware, James H.; Knowler, William C.; Staten, Myrlene A.

2014-01-01

OBJECTIVE Observational studies suggest that vitamin D may lower the risk of type 2 diabetes. However, data from long-term trials are lacking. The Vitamin D and Type 2 Diabetes (D2d) study is a randomized clinical trial designed to examine whether a causal relationship exists between vitamin D supplementation and the development of diabetes in people at high risk for type 2 diabetes. RESEARCH DESIGN AND METHODS D2d was designed with support from a U34 planning grant from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The final protocol was approved by the D2d Research Group, the data and safety monitoring board, and NIDDK. Key eligibility criteria are age ≥30 years, BMI of 24 (22.5 for Asian Americans) to 42 kg/m2, increased risk for diabetes (defined as meeting two of three glycemic criteria for prediabetes established by the American Diabetes Association [fasting glucose 100–125 mg/dL (5.5–6.9 mmol/L), 2-h postload glucose after 75-g glucose load 140–199 mg/dL (7.7–11.0 mmol/L), hemoglobin A1c 5.7–6.4% (39–46 mmol/mol)]), and no hyperparathyroidism, nephrolithiasis, or hypercalcemia. D2d participants are randomized to once-daily vitamin D3 (cholecalciferol 4,000 IU) or placebo and followed for an average of 3 years. The primary end point is time to incident diabetes as assessed by laboratory criteria during the study or by adjudication if diagnosed outside of D2d. Recruitment was initiated at the end of 2013. CONCLUSIONS D2d will test whether vitamin D supplementation is safe and effective at lowering the risk of progression to diabetes in people at high risk for type 2 diabetes. PMID:25205139

[Antiurolithiasic effect of a plant mixture of Herniaria glabra, Agropyron repens, Equisetum arvense and Sambucus nigra (Herbensurina®) in the prevention of experimentally induced nephrolithiasis in rats].

PubMed

Crescenti, Anna; Puiggròs, Francesc; Colomé, Arnau; Poch, Josep Antón; Caimari, Antoni; Bas, Josep Maria; Boqué, Noemí; Arola, Lluís

2015-12-01

To determine the effect of a botanical formulation of Herniaria glabra, Agropyron repens, Equisetum arvense, and Sambucus nigra as a preventive agent in an experimentally induced nefrolithiasis model in rats. Six groups of six Wistar male rats each were induced for nefrolithiasis by treatment with 0.75% ethylene glycol (EG) and 1% ammonium chloride for three days and then EG only for 15 days. One group was treated with placebo (control group) and the other groups (treated groups) were treated with 30 mg/Kg, 60 mg/Kg, 125 mg/Kg, 250 mg/Kg and 500 mg/Kg of the plant extract formulation (PEF). 24-h urine and water samples were collected one day before EG administration and at 7, 13 and 18 days to determine diuresis, crystalluria and urine biochemistry. The kidneys were removed for histological analysis. The phytochemical characterization of PEF and each of its component plant extracts was performed using gas chromatography-mass spectrometry and liquid chromatography-mass spectrometry. Animals treated with 125 mg/Kg of the PEF had statistically significantly lower calcium oxalate crystals deposits content compared to the control group. All PEF doses statistically significantly decreased the number of microcalcifications compared to the control group. Furthermore, the number of kidneys affected by subcapsular fibrosis was statistically significantly higher in control group than in treated groups with the PEF. The diuresis of the 125 mg/Kg and 500 mg/Kg PEF-treated groups was statistically significantly higher than that of the control group. A phytochemical analysis demonstrated the presence of flavonoids, dicarboxylic acids and saponins. Treatment with PEF prevents deposits of calcium oxalate crystals formation and of microcalcifications in the kidney, and reduces the risk of fibrosis subcapsular. 125 mg/Kg of PEF is the dose that has a greater effect on the studied parameters.

Pathogenesis of Bladder Calculi in the Presence of Urinary Stasis

PubMed Central

Childs, M. Adam; Mynderse, Lance A.; Rangel, Laureano J.; Wilson, Torrence M.; Lingeman, James E.; Krambeck, Amy E.

2013-01-01

Purpose Although minimal evidence exists, bladder calculi in men with benign prostatic hyperplasia are thought to be secondary to bladder outlet obstruction induced urinary stasis. We performed a prospective, multi-institutional clinical trial to determine whether metabolic differences were present in men with and without bladder calculi undergoing surgical intervention for benign prostatic hyperplasia induced bladder outlet obstruction. Materials and Methods Men who elected surgery for bladder outlet obstruction secondary to benign prostatic hyperplasia with and without bladder calculi were assessed prospectively and compared. Men without bladder calculi retained more than 150 ml urine post-void residual urine. Medical history, serum electrolytes and 24-hour urinary metabolic studies were compared. Results Of the men 27 had bladder calculi and 30 did not. Bladder calculi were associated with previous renal stone disease in 36.7% of patients (11 of 30) vs 4% (2 of 27) and gout was associated in 13.3% (4 of 30) vs 0% (0 of 27) (p <0.01 and 0.05, respectively). There was no observed difference in the history of other medical conditions or in serum electrolytes. Bladder calculi were associated with lower 24-hour urinary pH (median 5.9 vs 6.4, p = 0.02), lower 24-hour urinary magnesium (median 106 vs 167 mmol, p = 0.01) and increased 24-hour urinary uric acid supersaturation (median 2.2 vs 0.6, p <0.01). Conclusions In this comparative prospective analysis patients with bladder outlet obstruction and benign prostatic hyperplasia with bladder calculi were more likely to have a renal stone disease history, low urinary pH, low urinary magnesium and increased urinary uric acid supersaturation. These findings suggest that, like the pathogenesis of nephrolithiasis, the pathogenesis of bladder calculi is likely complex with multiple contributing lithogenic factors, including metabolic abnormalities and not just urinary stasis. PMID:23159588

Calcium sensitivity of dicarboxylate transport in cultured proximal tubule cells

PubMed Central

Schiro, Faith R.; Pajor, Ana M.; Hamm, L. Lee

2011-01-01

Urinary citrate is an important inhibitor of calcium nephrolithiasis and is primarily determined by proximal tubule reabsorption. The major transporter to reabsorb citrate is Na+-dicarboxylate cotransporter (NaDC1), which transports dicarboxylates, including the divalent form of citrate. We previously found that opossum kidney (OK) proximal tubule cells variably express either divalent or trivalent citrate transport, depending on extracellular calcium. The present studies were performed to delineate the mechanism of the effect of calcium on citrate and succinate transport in these cells. Transport was measured using isotope uptake assays. In some studies, NaDC1 transport was studied in Xenopus oocytes, expressing either the rabbit or opossum ortholog. In the OK cell culture model, lowering extracellular calcium increased both citrate and succinate transport by more than twofold; the effect was specific in that glucose transport was not altered. Citrate and succinate were found to reciprocally inhibit transport at low extracellular calcium (<60 μM), but not at normal calcium (1.2 mM); this mutual inhibition is consistent with dicarboxylate transport. The inhibition varied progressively at intermediate levels of extracellular calcium. In addition to changing the relative magnitude and interaction of citrate and succinate transport, decreasing calcium also increased the affinity of the transport process for various other dicarboxylates. Also, the affinity for succinate, at low concentrations of substrate, was increased by calcium removal. In contrast, in oocytes expressing NaDC1, calcium did not have a similar effect on transport, indicating that NaDC1 could not likely account for the findings in OK cells. In summary, extracellular calcium regulates constitutive citrate and succinate transport in OK proximal tubule cells, probably via a novel transport process that is not NaDC1. The calcium effect on citrate transport parallels in vivo studies that demonstrate the regulation of urinary citrate excretion with urinary calcium excretion, a process that may be important in decreasing urinary calcium stone formation. PMID:21123491

[Polyomavirus infection in an immunocompetent patient and literature overview].

PubMed

Chiarinotti, D; Ruva, C E; David, P; Capurro, F; Brustia, M; Omodeo Zorini, E; Benigni, E; Turello, E; De Leo, M; Verzetti, G

2002-01-01

Polyoma virus (PV) is a double-stranded DNA virus, member of the Papovaviridae family. BKV and JCV are the most studied in human pathology, whereas simian virus 40 (SV40) is pathogenic in the monkey and has been implicated in human carcinogenesis. PV is associated with renal and urinary tract pathology. The initial infection by PV occurs in childhood, probably by airways, and is usually asymptomatic. Subsequently, it remains latent in kidneys, tonsils and CNS and may reactivate in concomitance with significant T-cell dysfunction. Infection in immunocompromised patients can be clinically relevant. However, asymptomatic viruria may be detected in 0.3 % of individuals without a known history of immunodeficiency. We describe the case of a male patient, aged 31, admitted to our Unit for arterial hypertension and urinary abnormalities. He had a history of hemorrhagic cystitis in 1996 and persistent microscopic hematuria thereafter. Renal function was normal, arterial pressure well controlled with an ACE-inhibitor; urine culture was negative and most of the immunologic and rheumatologic tests were normal, with the exception of slightly reduced levels of C3 and an inverted CD4/CD8 ratio. Serology for HCV, HBV, HIV and screening for tumor markers were negative. Renal ultrasonography displayed an increased reflectivity, as seen in medical nephropathies; no nephrolithiasis was found. Urinary cytology showed "decoy cells", as typically found in PV infection, whose presence was confirmed by n-PCR. Diagnosis at discharge from the hospital was primary arterial hypertension and urinary JCV infection. Currently, no treatment of proven efficacy against PV is available. We think that there is an increasing amount of evidence to include screening for PV in the diagnosis of urinary tract abnormalities of unknown origin, even in apparently immunocompetent patients. Urinary cytology, in experienced hands, may be a useful and relatively inexpensive first step diagnostic tool.

Protective Effects of Pistacia lentiscus L. fruit extract against calcium oxalate monohydrate induced proximal tubular injury.

PubMed

Cheraft-Bahloul, Nassima; Husson, Cécile; Ourtioualous, Meriam; Sinaeve, Sébastien; Atmani, Djebbar; Stévigny, Caroline; Nortier, Joëlle L; Antoine, Marie-Hélène

2017-09-14

The world prevalence of kidney stones is increasing and plants are frequently used to treat urolithiasis. Pistacia lentiscus L, a plant which freely grows around the Mediterranean basin areas, is widely used for various pathologies. P. lentiscus has an important impact as it has economical value on top of its pharmacological interest. Decoctions of its aerial parts and/or resin are used to treat kidney stones. To in vitro assess the potential nephroprotective effect of Pistacia lentiscus ethanolic fruit extract (PLEF) on proximal tubular cells in response to the adhesion of calcium oxalate monohydrate (COM) crystals. Human Kidney [HK]-2 cells were incubated with and without COM in the presence or absence of PLEF. Cell viability was measured by the resazurin assay. The expression of E-cadherin was analyzed by PCR. The extracellular production of H 2 O 2 was measured by Amplex® Red H 2 O 2 Assay. The numbers of detached or non-adherent COM crystals in the presence of PLEF were microscopically captured and counted using ImageJ software. The interaction of PLEF with COM and the effect of PLEF on crystal size were analyzed by flow cytometry. The spectrophotometric measurement of turbidity was performed for assessing the COM concentration. PLEF incubated with COM was able to increase the cell viability. The decrease of E-cadherin expression after incubation with COM was counteracted by PLEF. Overproduction of H 2 O 2 induced by COM was also inhibited by PLEF. Observations using flow cytometry showed that interactions between PLEF and the COM crystals occurred. PLEF was also effective in reducing the particles size and in lowering COM concentration. Our data show that COM tubulotoxicity can be significantly reversed by PLEF -at least in part- via an inhibition of COM crystals adhesion onto the apical membrane. This early beneficial effect of PLEF needs to be further investigated as a useful strategy in nephrolithiasis prevention. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

Characteristics of renal papillae in kidney stone formers.

PubMed

Marien, Tracy P; Miller, Nicole L

2016-12-01

The mechanism of kidney stone formation is not well understood. In order to better understand the pathophysiology for specific kidney stone compositions and systemic diseases associated with kidney stones, endoscopic papillary mapping studies with concurrent biopsies have been conducted. This review will summarize the findings of these studies and proposed mechanisms for thirteen disease processes associated with kidney stones. A review of the literature was performed identifying thirteen studies that endoscopically mapped and biopsied renal papillae of different stone formers. These studies characterized renal papillae based on amount of Randall's plaque, Bellini's duct pathology, papillary contour changes, presence of attached stones, pitting, and frequently papillary and cortical biopsies. The groups studied and reviewed here are kidney stone formers who have a history of idiopathic calcium oxalate stone formation, cystinuria, brushite stones, gastric bypass, ileostomy, small bowel resection, primary hyperparathyroidism, distal renal tubular acidosis (dRTA), primary hyperoxaluria, idiopathic calcium phosphate stone formation, medullary sponge kidney (MSK), uric acid stones, and struvite stones. A proposed standardized scoring system for papillary pathology was also reviewed. The series showed various degrees and types of changes to the renal papillae and corresponding histopathologic changes for each type of stone former reviewed. Those with predominantly alone Randall's plaque pathology had less tissue damage versus those with extensive Bellini's duct lesions who had more interstitial fibrosis and cortical pathology. Randall's plaques are associated with stone formers who have low urinary volume, high urinary calcium, and acidic urine and thus are frequently seen in those with brushite stones, primary hyperparathyroidism, small bowel resection, and idiopathic calcium phosphate stone formers. Bellini's duct plugging and pathology is theorized to occur via free solution crystallization, ductal obstruction, inflammation, cellular injury, fibrosis, and acidification defects. Ureteroscopic manifestations of stone disease can vary from normal appearing papillae to significantly diseased appearing papillae. Some diseases have very characteristic papillary changes. Further studies are necessary to fully elucidate the mechanisms of stone formation in patients with nephrolithiasis.

Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment

PubMed Central

Tebben, Peter J.; Singh, Ravinder J.

2016-01-01

Hypercalcemia occurs in up to 4% of the population in association with malignancy, primary hyperparathyroidism, ingestion of excessive calcium and/or vitamin D, ectopic production of 1,25-dihydroxyvitamin D [1,25(OH)2D], and impaired degradation of 1,25(OH)2D. The ingestion of excessive amounts of vitamin D3 (or vitamin D2) results in hypercalcemia and hypercalciuria due to the formation of supraphysiological amounts of 25-hydroxyvitamin D [25(OH)D] that bind to the vitamin D receptor, albeit with lower affinity than the active form of the vitamin, 1,25(OH)2D, and the formation of 5,6-trans 25(OH)D, which binds to the vitamin D receptor more tightly than 25(OH)D. In patients with granulomatous disease such as sarcoidosis or tuberculosis and tumors such as lymphomas, hypercalcemia occurs as a result of the activity of ectopic 25(OH)D-1-hydroxylase (CYP27B1) expressed in macrophages or tumor cells and the formation of excessive amounts of 1,25(OH)2D. Recent work has identified a novel cause of non-PTH-mediated hypercalcemia that occurs when the degradation of 1,25(OH)2D is impaired as a result of mutations of the 1,25(OH)2D-24-hydroxylase cytochrome P450 (CYP24A1). Patients with biallelic and, in some instances, monoallelic mutations of the CYP24A1 gene have elevated serum calcium concentrations associated with elevated serum 1,25(OH)2D, suppressed PTH concentrations, hypercalciuria, nephrocalcinosis, nephrolithiasis, and on occasion, reduced bone density. Of interest, first-time calcium renal stone formers have elevated 1,25(OH)2D and evidence of impaired 24-hydroxylase-mediated 1,25(OH)2D degradation. We will describe the biochemical processes associated with the synthesis and degradation of various vitamin D metabolites, the clinical features of the vitamin D-mediated hypercalcemia, their biochemical diagnosis, and treatment. PMID:27588937

Use of Potassium Citrate to Reduce the Risk of Renal Stone Formation During Spaceflight

NASA Technical Reports Server (NTRS)

Whitson, P. A.; Pietrzyk, R. A.; Sams, C. F.; Jones, J. A.; Nelman-Gonzalez, M.; Hudson, E. K.

2008-01-01

Introduction: NASA s Vision for Space Exploration centers on exploration class missions including the goals of returning to the moon and landing on Mars. One of NASA s objectives is to focus research on astronaut health and the development of countermeasures that will protect crewmembers during long duration voyages. Exposure to microgravity affects human physiology and results in changes in the urinary chemical composition favoring urinary supersaturation and an increased risk of stone formation. Nephrolithiasis is a multifactorial disease and development of a renal stone is significantly influenced by both dietary and environmental factors. Previous results from long duration Mir and short duration Shuttle missions have shown decreased urine volume, pH, and citrate levels and increased calcium. Citrate, an important inhibitor of calcium-containing stones, binds with urinary calcium reducing the amount of calcium available to form stones. Citrate inhibits renal stone recurrence by preventing crystal growth, aggregation, and nucleation and is one of the most common therapeutic agents used to prevent stone formation. Methods: Thirty long duration crewmembers (29 male, 1 female) participated in this study. 24-hour urines were collected and dietary monitoring was performed pre, in, and postflight. Crewmembers in the treatment group received two potassium citrate (KCIT) pills, 10 mEq/pill, ingested daily beginning 3 days before launch, all inflight days and through 14 days postflight. Urinary biochemical and dietary analyses were completed. Results: KCIT treated subjects exhibited decreased urinary calcium excretion and maintained the levels of calcium oxalate supersaturation risk at their preflight levels. The increased urinary pH levels in these subjects reduced the risk of uric acid stones. Discussion: The current study investigated the use of potassium citrate as a countermeasure to minimize the risk of stone formation during ISS missions. Results suggest that supplementation with potassium citrate decreases the risk of stone formation during and immediately after spaceflight.

Association with meteo-climatological factors and daily emergency visits for renal colic and urinary calculi in Cuneo, Italy. A retrospective observational study, 2007-2010.

PubMed

Condemi, Vincenzo; Gestro, Massimo; Dozio, Elena; Tartaglino, Bruno; Corsi Romanelli, Massimiliano Marco; Solimene, Umberto; Meco, Roberto

2015-03-01

The incidence of nephrolithiasis is rising worldwide, especially in women and with increasing age. Incidence and prevalence of kidney stones are affected by genetic, nutritional, and environmental factors. The aim of this study is to investigate the link between various meteorological factors (independent variables) and the daily number of visits to the Emergency Department (ED of the S. Croce and Carle Hospital of Cuneo for renal colic (RC) and urinary stones (UC) as the dependent variable over the years 2007-2010.The Poisson generalized regression models (PGAMs) have been used in different progressive ways. The results of PGAMs (stage 1) adjusted for seasonal and calendar factors confirmed a significant correlation (p < 0.03) with the thermal parameter. Evaluation of the dose-response effect [PGAMs combined with distributed lags nonlinear models (DLNMs)-stage 2], expressed in terms of relative risk (RR) and cumulative relative risk (RRC), indicated a relative significant effect up to 15 lag days of lag (RR > 1), with a first peak after 5 days (lag ranges 0-1, 0-3, and 0-5) and a second weak peak observed along the 5-15 lag range days. The estimated RR for females was significant, mainly in the second and fourth age group considered (19-44 and >65 years): RR for total ED visits 1.27, confidence interval (CI) 1.11-1.46 (lag 0-5 days); RR 1.42, CI 1.01-2.01 (lag 0-10 days); and RR 1.35, CI 1.09-1.68 (lag 0-15 days). The research also indicated a moderate involvement of the thermal factor in the onset of RC caused by UC, exclusively in the female sex. Further studies will be necessary to confirm these results.

Furosemide/Fludrocortisone Test and Clinical Parameters to Diagnose Incomplete Distal Renal Tubular Acidosis in Kidney Stone Formers.

PubMed

Dhayat, Nasser A; Gradwell, Michael W; Pathare, Ganesh; Anderegg, Manuel; Schneider, Lisa; Luethi, David; Mattmann, Cedric; Moe, Orson W; Vogt, Bruno; Fuster, Daniel G

2017-09-07

Incomplete distal renal tubular acidosis is a well known cause of calcareous nephrolithiasis but the prevalence is unknown, mostly due to lack of accepted diagnostic tests and criteria. The ammonium chloride test is considered as gold standard for the diagnosis of incomplete distal renal tubular acidosis, but the furosemide/fludrocortisone test was recently proposed as an alternative. Because of the lack of rigorous comparative studies, the validity of the furosemide/fludrocortisone test in stone formers remains unknown. In addition, the performance of conventional, nonprovocative parameters in predicting incomplete distal renal tubular acidosis has not been studied. We conducted a prospective study in an unselected cohort of 170 stone formers that underwent sequential ammonium chloride and furosemide/fludrocortisone testing. Using the ammonium chloride test as gold standard, the prevalence of incomplete distal renal tubular acidosis was 8%. Sensitivity and specificity of the furosemide/fludrocortisone test were 77% and 85%, respectively, yielding a positive predictive value of 30% and a negative predictive value of 98%. Testing of several nonprovocative clinical parameters in the prediction of incomplete distal renal tubular acidosis revealed fasting morning urinary pH and plasma potassium as the most discriminative parameters. The combination of a fasting morning urinary threshold pH <5.3 with a plasma potassium threshold >3.8 mEq/L yielded a negative predictive value of 98% with a sensitivity of 85% and a specificity of 77% for the diagnosis of incomplete distal renal tubular acidosis. The furosemide/fludrocortisone test can be used for incomplete distal renal tubular acidosis screening in stone formers, but an abnormal furosemide/fludrocortisone test result needs confirmation by ammonium chloride testing. Our data furthermore indicate that incomplete distal renal tubular acidosis can reliably be excluded in stone formers by use of nonprovocative clinical parameters. Copyright © 2017 by the American Society of Nephrology.

Renal Stone Risk during Spaceflight: Assessment and Countermeasure Validation

NASA Technical Reports Server (NTRS)

Whitson, Peggy A.; Pietrzyk, Robert A.; Jones, Jeffery A.; Sams, Clarence F.; Hudson, Ed K.; Nelman-Gonzalez, Mayra

2009-01-01

NASA's Vision for Space Exploration centers on exploration class missions including the goals of returning to the moon and landing on Mars. One of NASA's objectives is to focus research on astronaut health and the development of countermeasures that will protect crewmembers during long duration voyages. Exposure to microgravity affects human physiology and results in changes in the urinary chemical composition favoring urinary supersaturation and an increased risk of stone formation. Nephrolithiasis is a multifactorial disease and development of a renal stone is significantly influenced by both dietary and environmental factors. Previous results from long duration Mir and short duration Shuttle missions have shown decreased urine volume, pH, and citrate levels and increased calcium. Citrate, an important inhibitor of calcium-containing stones, binds with urinary calcium reducing the amount of calcium available to form stones. Citrate inhibits renal stone recurrence by preventing crystal growth, aggregation, and nucleation and is one of the most common therapeutic agents used to prevent stone formation. Methods: Thirty long duration crewmembers (29 male, 1 female) participated in this study. 24-hour urines were collected and dietary monitoring was performed pre-, in-, and postflight. Crewmembers in the treatment group received two potassium citrate (KCIT) pills, 10 mEq/pill, ingested daily beginning 3 days before launch, all in-flight days and through 14 days postflight. Urinary biochemical and dietary analyses were completed. Results: KCIT treated subjects exhibited decreased urinary calcium excretion and maintained the levels of calcium oxalate supersaturation risk at their preflight levels. The increased urinary pH levels in these subjects reduced the risk of uric acid stones. Discussion: The current study investigated the use of potassium citrate as a countermeasure to minimize the risk of stone formation during ISS missions. Results suggest that supplementation with potassium citrate decreases the risk of stone formation during and immediately after spaceflight.

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center

PubMed Central

Soliman, Neveen A.; Nabhan, Marwa M.; Abdelrahman, Safaa M.; Abdelaziz, Hanan; Helmy, Rasha; Ghanim, Khaled; Bazaraa, Hafez M.; Badr, Ahmed M.; Tolba, Omar A.; Kotb, Magd A.; Eweeda, Khaled M.; Fayez, Alaa

2018-01-01

Background and aim Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients. Methods This descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutational analysis was performed to confirm the diagnosis of PH1. Results The study cohort included 26 patients with presumable PH1 with male to female ratio of 1.4:1. The median age at time of diagnosis was 6 years, nevertheless the median age at initial symptoms was 3 years. Thirteen patients (50%) were diagnosed before the age of 5 years. Two patients had no symptoms and were diagnosed while screening siblings of index patients. Seventeen patients (65.4%) had reached end-stage renal disease (ESRD): 6/17 (35.3%) during infancy, 4/17 (23.5%) in early childhood and 7/17 (41.29%) in late childhood. Two patients (7.7%) had clinically manifest extra renal (retina, heart, bone, soft tissue) involvement. Mutational analysis of AGXT gene confirmed the diagnosis of PH1 in 15 out of 19 patients (79%) where analysis had been performed. Fifty percent of patients with maintained renal functions had projected 10 years renal survival. Conclusion PH1 is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. More than two-thirds of patients presented prior to the age of 5 years; half of them with the stormy course of infantile PH1. ESRD was the commonest presenting manifestation in two-thirds of our cohort. PMID:28161266

Vascular Disease and Kidney Stones: Abdominal Aortic Calcifications Are Associated with Low Urine pH and Hypocitraturia.

PubMed

Patel, Nishant D; Ward, Ryan D; Calle, Juan; Remer, Erick M; Monga, Manoj

2017-09-01

Vascular calcifications are associated with nephrolithiasis. Although studies have demonstrated correlations with vascular disease and calcium stones in kidney stone formers (KSF), an etiologic link has remained elusive. As a noncontrast CT (NCCT) scan is typically part of a stone evaluation, our objective was to evaluate the association of NCCT-based assessment of abdominal aortic calcifications (AACs) with 24-hour urine parameters and stone composition. Ninety-seven KSF were included with CT imaging and 24-hour urine studies. For each patient, semi-automated CT software was utilized to provide an AAC Agatston score from the celiac axis to the aortic bifurcation. Univariate analysis was performed to compare patients with or without AAC. Multivariate logistic regression was performed to assess for variables associated with 24-hour urine parameters and stone composition. The presence of AAC was associated with hypertension, diabetes, peripheral vascular disease, and coronary artery disease. Patients with any AAC showed lower 24-hour urine citrate (399 vs 593 mg/day, p < 0.001) and lower 24-hour urine pH (5.862 vs 6.328, p = 0.003). When controlling for age, system comorbidities, the presence of AAC was associated with low urine pH <6 (odds ratio [OR] 2.86, p = 0.032) and hypocitraturia <320 mg/day (OR 4.37, p = 0.005). The receiver operating characteristic curve showed that increasing AAC was associated with low urine pH (area under the curve [AUC] 0.683, p = 0.002) and uric acid stone formation (AUC 0.698, p = 0.045). NCCT-based diagnosis of AAC is associated with low urine pH, hypocitraturia, and uric acid stone formation. The presence of AAC could be considered an additional prognosticator for the utility of alkalinization therapy.

Hyperparathyroidism in pregnancy: options for localization and surgical therapy.

PubMed

McMullen, Todd P W; Learoyd, Diana L; Williams, David C; Sywak, Mark S; Sidhu, Stan B; Delbridge, Leigh W

2010-08-01

Hyperparathyroidism in pregnancy is a threat to the health of both mother and fetus. The mothers suffer commonly from nephrolithiasis, hyperemesis, or even hypercalcemic crisis. Untreated disease will commonly complicate fetal development and fetal death is a significant risk. Treatment options, including medical and surgical therapy, are debated in the literature. This is a case series comprising seven patients with primary hyperparathyroidism in pregnancy. Data collected included symptoms at diagnosis, biochemical abnormalities, pathologic findings, treatment regimes, and subsequent maternal and fetal outcomes. Seven women, aged 20 to 39 years, presented with hyperparathyroidism during pregnancy. The earliest presented at 8 weeks and the latest at 38 weeks. Four of seven patients experienced renal calculi. Calcium levels were 2.7-3.5 mmol/l. All were found to have solitary parathyroid adenomas, of which two were in ectopic locations. Fetal complications included three preterm deliveries and one fetal death with no cases of neonatal tetany. Maternal and fetal complications could not be predicted based on duration or severity of hypercalcemia. Three patients were treated during pregnancy with surgery, and two of these had ectopic glands that required reoperations with a novel approach using Tc-99m sestamibi scanning during pregnancy to assist in localizing the abnormal gland. Four cases were treated postpartum with a combination of open and minimally invasive approaches after localization. No operative complications or fetal loss related to surgery were observed in this cohort. Primary hyperparathyroidism in pregnancy represents a significant risk for maternal and fetal complications that cannot be predicted by duration of symptoms or serum calcium levels. Surgical treatment should be considered early, and a minimally invasive approach with ultrasound is best suited to mitigating risk to mother and fetus. Equally important, Tc-99m sestamibi imaging may be used safely for localization of the parathyroids after negative cervical explorations.

Association between Circulating Vitamin D Level and Urolithiasis: A Systematic Review and Meta-Analysis.

PubMed

Hu, Henglong; Zhang, Jiaqiao; Lu, Yuchao; Zhang, Zongbiao; Qin, Baolong; Gao, Hongbin; Wang, Yufeng; Zhu, Jianning; Wang, Qing; Zhu, Yunpeng; Xun, Yang; Wang, Shaogang

2017-03-18

Many studies compared the serum/plasma 1,25 dihydroxyvitamin D₃ (1,25(OH)₂D) and 25 hydroxyvitamin D₃ (25(OH)D) between people with and without nephrolithiasis, and their results were conflicting. After systematically searching PubMed, Web of Science, The Cochrane Library, CNKI, and the Wanfang Database, we conducted a meta-analysis. Thirty-two observational studies involving 23,228 participants were included. Meta-analysis of these studies showed that of stone formers (SFs), calcium SFs had significantly higher concentrations of 1,25(OH)₂D (weighted mean difference (WMD), 10.19 pg/mL; 95% confidence interval (CI), 4.31-16.07; p = 0.0007 and WMD, 11.28 pg/mL; 95% CI, 4.07-18.50; p = 0.002, respectively) than non-stone formers, while the levels of 25(OH)D (WMD, 0.88 ng/mL; 95% CI, -1.04-2.80; p = 0.37 and WMD, -0.63 ng/mL; 95% CI, -2.72-1.47; p = 0.56, respectively) are similar. Compared with controls and normocalciuria SFs, hypercalciuria SFs had increased circulating 1,25(OH)₂D (WMD, 9.41 pg/mL; 95% CI, 0.15-18.67; p = 0.05 and WMD, 2.75 pg/mL; 95% CI, -0.20-5.69; p = 0.07, respectively) and markedly higher 25(OH)D (WMD, 5.02 ng/mL; 95% CI, 0.99-9.06; p = 0.01 and WMD, 5.02 ng/mL; 95% CI, 2.14-7.90; p = 0.0006, respectively). Normocalciuria SFs had elevated 1,25(OH)₂D level (WMD, 6.85 pg/mL; 95% CI, -5.00-18.71; p = 0.26) and comparable 25(OH)D (WMD, 0.94 ng/mL; 95% CI, -3.55-5.43; p = 0.68). Sensitivity analysis generated similar results. Current evidence suggests that increased circulating 1,25(OH)₂D is associated with urinary stones and a higher level of circulating 25(OH)D is significantly associated with hypercalciuria urolithiasis. Further studies are still needed to reconfirm and clarify the role of vitamin D in the pathogenesis of stones.

3D marker-controlled watershed for kidney segmentation in clinical CT exams.

PubMed

Wieclawek, Wojciech

2018-02-27

Image segmentation is an essential and non trivial task in computer vision and medical image analysis. Computed tomography (CT) is one of the most accessible medical examination techniques to visualize the interior of a patient's body. Among different computer-aided diagnostic systems, the applications dedicated to kidney segmentation represent a relatively small group. In addition, literature solutions are verified on relatively small databases. The goal of this research is to develop a novel algorithm for fully automated kidney segmentation. This approach is designed for large database analysis including both physiological and pathological cases. This study presents a 3D marker-controlled watershed transform developed and employed for fully automated CT kidney segmentation. The original and the most complex step in the current proposition is an automatic generation of 3D marker images. The final kidney segmentation step is an analysis of the labelled image obtained from marker-controlled watershed transform. It consists of morphological operations and shape analysis. The implementation is conducted in a MATLAB environment, Version 2017a, using i.a. Image Processing Toolbox. 170 clinical CT abdominal studies have been subjected to the analysis. The dataset includes normal as well as various pathological cases (agenesis, renal cysts, tumors, renal cell carcinoma, kidney cirrhosis, partial or radical nephrectomy, hematoma and nephrolithiasis). Manual and semi-automated delineations have been used as a gold standard. Wieclawek Among 67 delineated medical cases, 62 cases are 'Very good', whereas only 5 are 'Good' according to Cohen's Kappa interpretation. The segmentation results show that mean values of Sensitivity, Specificity, Dice, Jaccard, Cohen's Kappa and Accuracy are 90.29, 99.96, 91.68, 85.04, 91.62 and 99.89% respectively. All 170 medical cases (with and without outlines) have been classified by three independent medical experts as 'Very good' in 143-148 cases, as 'Good' in 15-21 cases and as 'Moderate' in 6-8 cases. An automatic kidney segmentation approach for CT studies to compete with commonly known solutions was developed. The algorithm gives promising results, that were confirmed during validation procedure done on a relatively large database, including 170 CTs with both physiological and pathological cases.

Patients with gout can be cured in primary care.

PubMed

Rees, Frances; Doherty, Michael

2014-12-01

Gout affects 2.5% of the total UK population and is four times more common in men than women. The peak prevalence and incidence in the UK is in those aged 80-84 years. Gout is associated with comorbidities such as nephrolithiasis, chronic renal impairment, metabolic syndrome, depression and heart disease. It is also associated with increased mortality. Untreated gout can result in disabling irreversible peripheral joint damage and chronic usage-related pain. However, gout is curable. The pathogenic agents that cause gout i.e.urate crystals can be eliminated through a combination of effective patient education and evidence-based, targeted urate-lowering therapy. Gout is caused by the precipitation of monosodium urate crystals in and around a joint. The crystals preferentially form in peripheral, cooler joints and especially in those with osteoarthritis. It is thought that some of these preformed crystals within articular cartilage spill over into the joint space and trigger an acute attack of inflammation. Uric acid is predominantly renally excreted and the common heritable component of gout results from relative inefficiency of urate excretion. Chronic kidney disease, metabolic syndrome and drugs that reduce renal function (e.g. thiazide diuretics, beta-blockers and ACE inhibitors) will all lead to reduced elimination. Patients with chronic gout can present with monoarthritis but more commonly present with asymmetrical polyarthritis or tophi. Joints affected by osteoarthritis are preferentially targeted, the most common sites of involvement are feet, knees, hands and elbows. Diagnosis can be confirmed in primary care by taking a good history and clinical examination. An acute peripheral monoarthritis which reaches its peak within 24 hours and causes 'the worst pain ever experienced' is characteristic of an acute attack. A patient may have co-existing risk factors for gout such as osteoarthritis, obesity, hypertension, renal impairment, diuretic and antihypertensive drug use or increased beer or spirit consumption. A raised serum uric acid can confirm the diagnosis, however, this can be normal in the acute phase. Radiographs are rarely helpful but joint ultrasound may demonstrate deposits in cartilage, the synovium and peri-articular sites.

Epidemiology of kidney stones in Iceland: a population-based study.

PubMed

Indridason, Olafur S; Birgisson, Sigurjon; Edvardsson, Vidar O; Sigvaldason, Helgi; Sigfusson, Nikulas; Palsson, Runolfur

2006-01-01

The prevalence of kidney stones varies greatly between ethnic groups and geographic locations, ranging from 8% to 19% in males and from 3% to 5% in females in Western countries. The aim of this study was to examine the epidemiology of kidney stones in Iceland. Data were derived from the Reykjavik Study, a population-based cohort study carried out between 1967 and 1991. All subjects answered a thorough questionnaire concerning their medical history at each visit. The lifetime prevalence of kidney stones was calculated based on the answer to the question "Have you ever been diagnosed with a kidney stone?" at each person's first visit. Incidence was calculated based on answers from subjects who had made two or more visits. Prevalence and incidence were age-standardized to the truncated world population. Family history of kidney stones was also evaluated. A total of 9039 men aged 33-80 years and 9619 women aged 33-81 years participated. Of these, 423 males and 307 females had a history of kidney stones (p=0.001). Prevalence increased significantly with age for both genders. Men aged 30-34 years had a prevalence of 2.9%, compared to 8.8% for those aged 65-69 years, whereas corresponding values for women were 2.5% and 5.0%. The age-standardized prevalence for the 30-79 years age group was 4.3% for men and 3.0% for women. No significant increase in prevalence was observed over time. The incidence was 562 per 100 000 per year among men and increased significantly with age. The incidence among women was 197 per 100 000 per year and did not differ between age groups. A family history of nephrolithiasis was present in 25% of subjects with a history of kidney stones, and in 4% of those without. The incidence and prevalence of kidney stones in Icelandic women are similar to those that have been reported in other Western countries. The prevalence among men is lower that in neighboring countries but the incidence is similar. A strong family history of kidney stones suggests a genetic predisposition.

Marketing approval for the lithotripter.

PubMed

Nightingale, S L; Young, F E

1986-01-01

In December 1984, the Food and Drug Administration (FDA) granted Dornier Systems (FRG) approval to market the external shock wave lithotripter (ESWL) in the USA. The Medical Device Amendments of the Food, Drug, and Cosmetic Act require that the FDA evaluate the safety and effectiveness of medical devices intended for commercial distribution in the U.S. Such evaluation includes basic scientific studies, animal testing, and investigational studies in human subjects, culminating in a judgment concerning acceptable risks in terms of anticipated benefits, and whether the device is effective for its intended use. Prior to human studies in West Germany, Dornier had evaluated the destruction of stones of varying composition, measured the rate and energy of stone destruction, and tested blood samples and lymphocyte cultures exposed to shock waves. In addition, studies in both rats and dogs had demonstrated the feasibility of the technique and evidence of safety. Such data are provided by manufacturers when applying for an investigational device exemption (IDE) from the FDA, which permits clinical studies in humans; such studies also require the approval of an Institutional Review Board. The FDA approved Dornier's IDE, allowing human investigational use of the ESWL in facilities in the U.S., conducted concurrently with similar studies in West Germany. Upon completion of clinical trials, data acquired in vitro, in laboratory animals, and in human investigations are submitted to the FDA for a premarked approval application (PMAA). The Agency was given 6 months to make a decision, taking into consideration the recommendation of an advisory panel of experts from outside the Agency who had reviewed the same data. In its evaluation of the ESWL for safety and effectiveness, the FDA considered the question of alternative practices and procedures to treat nephrolithiasis, including percutaneous nephrolithotomy and open surgical procedures, and the adverse effects of such procedures. Clinical data available at the time of review for approval included reports of treatment of 667 patients in West German centers, and 327 patients treated in three U.S. facilities. Dornier and the FDA initiated discussions concerning the labeling of the device and a postmarketing surveillance plan. These were completed and marketing approval for the ESWL was granted.

Urolithiasis, Urinary Cancer, and Home Drinking Water Source in the United States Territory of Guam, 2006-2010.

PubMed

Haddock, Robert L; Olson, David R; Backer, Lorraine; Malilay, Josephine

2016-05-24

We reviewed patient records with a first-listed diagnosis of urolithiasis-also known as urinary tract or kidney stone disease, nephrolithiasis-upon discharge from Guam's sole civilian hospital during 2006 to 2010 and urinary cancer mortality records from the Guam Cancer Registry for 1970 to 2009 to determine the source of municipal water supplied to the patients' residence. The objective was to investigate a possible relationship between the sources of municipal water supplied to Guam villages and the incidence of urolithiasis and urinary cancer. We analyzed hospital discharge diagnoses of urolithiasis or renal calculi by calculating the incidence of first-mentioned discharge for urolithiasis or renal calculi and comparing rates across demographic or geographic categories while adjusting by age, sex, and ethnicity/race. We reviewed cancer registry records of urinary cancer deaths by patient residence. The annual incidence of hospitalization for urolithiasis was 5.22 per 10,000. Rates adjusted for sex or age exhibited almost no change. The rate of 9.83 per 10,000 among Chamorros was significantly higher (p < 0.05) than the rates among any other ethnic group or race. When villages were grouped by water source, rates of patients discharged with a first-listed diagnosis of urolithiasis, adjusted for ethnicity/race, were similar for villages using either well water (5.44 per 10,000) or mixed source water (5.39 per 10,000), and significantly greater than the rate for villages using exclusively reservoir water (1.35 per 10,000). No statistically significant differences were found between the water source or village of residence and urinary cancer mortality. Some Guam residents living in villages served completely or partly by deep well water high in calcium carbonate may be at increased risk for urolithiasis compared with residents living in villages served by surface waters. Although the risk appears to be highest in villagers of Chamorro ethnicity, residents should be aware of other contributing risk factors and steps to take to avoid developing this health problem.

Medical management to prevent recurrent nephrolithiasis in adults: a systematic review for an American College of Physicians Clinical Guideline.

PubMed

Fink, Howard A; Wilt, Timothy J; Eidman, Keith E; Garimella, Pranav S; MacDonald, Roderick; Rutks, Indulis R; Brasure, Michelle; Kane, Robert L; Ouellette, Jeannine; Monga, Manoj

2013-04-02

Optimum management to prevent recurrent kidney stones is uncertain. To evaluate the benefits and harms of interventions to prevent recurrent kidney stones. MEDLINE, Cochrane, and other databases through September 2012 and reference lists of systematic reviews and randomized, controlled trials (RCTs). 28 English-language RCTs that studied treatments to prevent recurrent kidney stones and reported stone outcomes. One reviewer extracted data, a second checked accuracy, and 2 independently rated quality and graded strength of evidence. In patients with 1 past calcium stone, low-strength evidence showed that increased fluid intake halved recurrent composite stone risk compared with no treatment (relative risk [RR], 0.45 [95% CI, 0.24 to 0.84]). Low-strength evidence showed that reducing soft-drink consumption decreased recurrent symptomatic stone risk (RR, 0.83 [CI, 0.71 to 0.98]). In patients with multiple past calcium stones, most of whom were receiving increased fluid intake, moderate-strength evidence showed that thiazides (RR, 0.52 [CI, 0.39 to 0.69]), citrates (RR, 0.25 [CI, 0.14 to 0.44]), and allopurinol (RR, 0.59 [CI, 0.42 to 0.84]) each further reduced composite stone recurrence risk compared with placebo or control, although the benefit from allopurinol seemed limited to patients with baseline hyperuricemia or hyperuricosuria. Other baseline biochemistry measures did not allow prediction of treatment efficacy. Low-strength evidence showed that neither citrate nor allopurinol combined with thiazide was superior to thiazide alone. There were few withdrawals among patients with increased fluid intake, many among those with other dietary interventions and more among those who received thiazide and citrate than among control patients. Reporting of adverse events was poor. Most trial participants had idiopathic calcium stones. Nearly all studies reported a composite (including asymptomatic) stone recurrence outcome. In patients with 1 past calcium stone, increased fluid intake reduced recurrence risk. In patients with multiple past calcium stones, addition of thiazide, citrate, or allopurinol further reduced risk. Agency for Healthcare Research and Quality.

Extracellular vesicles in urine of women with but not without kidney stones manifest patterns similar to men: a case control study.

PubMed

Jayachandran, Muthuvel; Lugo, Ghiara; Heiling, Hillary; Miller, Virginia M; Rule, Andrew D; Lieske, John C

2015-01-01

The lifetime incidence of kidney stones is about two times greater in men compared to women. Extracellular vesicles (EVs) shed from activated cells are present in the urine and may reflect or even mediate renal physiology and/or pathology. This study was designed to standardize methodology to characterize urinary EVs by digital flow cytometry and to identify possible sex differences in EVs in persons with and without their first symptomatic kidney stones. Twenty-four-hour urine collections were obtained from persons presenting with their first kidney stone episode (n = 50 women, 60 men; age 19-76 years) and sex- and age-matched controls from the general population (n = 24 women, 36 men). Standardization: Size of EV was variable within all groups. EV positivity was verified with two fluorophores for surface phosphatidylserine and/or using two different protein markers specific for renal-specific cells. The number of phosphatidylserine- and exosome marker-positive EVs did not correlate with urine osmolality and were similar in fresh vs. frozen and between two sequential urine collections from the same individual. Sex differences: Urine from women controls contained greater (P < 0.05) numbers of EVs positive for phosphatidylserine, exosomes, inflammatory factors and adhesion molecules, and cell-specific markers from different segments of the nephron, renal pelvis, and bladder compared to control men. In contrast, urine from women with kidney stones contained significantly (P < 0.05) lower numbers of EVs derived from podocytes, parietal cells, proximal convoluted tubule, thin and thick loop of Henle, distal tubule, collecting duct, renal pelvis, and bladder compared to control women and contained similar quantities of these types of EVs in men with and without kidney stones. There were also no sex differences in EVs positive for cell adhesion (E-cadherin and inter-cellular adhesion molecule-1 [ICAM-1]) molecules. Unlike women who do not have kidney stones, EVs in urine from women with nephrolithiasis are similar to men with and without kidney stones. Thus, EVs may mediate or reflect aspects of kidney stone pathogenesis and perhaps provide clues regarding sex differences in kidney stone incidence rates.

Clinical spectrum of primary hyperoxaluria type 1: Experience of a tertiary center.

PubMed

Soliman, Neveen A; Nabhan, Marwa M; Abdelrahman, Safaa M; Abdelaziz, Hanan; Helmy, Rasha; Ghanim, Khaled; Bazaraa, Hafez M; Badr, Ahmed M; Tolba, Omar A; Kotb, Magd A; Eweeda, Khaled M; Fayez, Alaa

2017-05-01

Primary hyperoxalurias are rare inborn errors of metabolism resulting in increased endogenous production of oxalate that leads to excessive urinary oxalate excretion. Diagnosis of primary hyperoxaluria type 1 (PH1) is a challenging issue and depends on diverse diagnostic tools including biochemical analysis of urine, stone analysis, renal biopsy, genetic studies and in some cases liver biopsy for enzyme assay. We characterized the clinical presentation as well as renal and extrarenal phenotypes in PH1 patients. This descriptive cohort study included patients with presumable PH1 presenting with nephrolithiasis and/or nephrocalcinosis (NC). Precise clinical characterization of renal phenotype as well as systemic involvement is reported. AGXT mutational analysis was performed to confirm the diagnosis of PH1. The study cohort included 26 patients with presumable PH1 with male to female ratio of 1.4:1. The median age at time of diagnosis was 6 years, nevertheless the median age at initial symptoms was 3 years. Thirteen patients (50%) were diagnosed before the age of 5 years. Two patients had no symptoms and were diagnosed while screening siblings of index patients. Seventeen patients (65.4%) had reached end-stage renal disease (ESRD): 6/17 (35.3%) during infancy, 4/17 (23.5%) in early childhood and 7/17 (41.29%) in late childhood. Two patients (7.7%) had clinically manifest extra renal (retina, heart, bone, soft tissue) involvement. Mutational analysis of AGXT gene confirmed the diagnosis of PH1 in 15 out of 19 patients (79%) where analysis had been performed. Fifty percent of patients with maintained renal functions had projected 10 years renal survival. PH1 is a heterogeneous disease with wide spectrum of clinical, imaging and functional presentation. More than two-thirds of patients presented prior to the age of 5 years; half of them with the stormy course of infantile PH1. ESRD was the commonest presenting manifestation in two-thirds of our cohort. Copyright © 2016 Association Société de néphrologie. Published by Elsevier Masson SAS. All rights reserved.

Can Stoss Therapy Be Used in Children with Vitamin D Deficiency or Insufficiency without Rickets?

PubMed

Koçyiğit, Cemil; Çatlı, Gönül; İnce, Gülberat; Özkan, Elif Büşra; Dündar, Bumin Nuri

2017-06-01

Stoss vitamin D treatment has been recommended for its non-skeletal benefits in adults, but there is a lack of data on the optimal dose of vitamin D stoss therapy in children with vitamin D deficiency/insufficiency without rickets. This study aimed to compare efficiency/side effects of two different stoss therapy regimens (10 000 IU/kg and 300 000 IU vitamin D3) administered in children with vitamin D deficiency/insufficiency without rickets. Sixty-four children who had vitamin D deficiency/insufficiency were studied. A serum 25-hydroxyvitamin-D (25-OH-D) level of 15-20 ng/mL was considered as vitamin D insufficient and <15 ng/mL was considered as vitamin D deficient. The patients were divided into two groups according to the stoss therapy doses they received. Serum calcium, phosphate, alkaline phosphatase, 25-OH-D, parathyroid hormone levels, and spot urine calcium/creatinine ratios before/after treatment were recorded. Wrist radiography and renal ultrasonography were performed. The mean age of the subjects was 10.6±4.4 years. Thirty-two children were treated with a single vitamin D3 dose of 10 000 IU/kg and 32 patients received 300 000 IU. No difference was found in 25-OH-D levels between the two groups at presentation. The mean level of 25-OH-D was higher in the 10 000 IU/kg group at the second week of therapy. There was no difference between the groups at post-treatment weeks 4 and 12. The 25-OH-D was found to be below optimal levels (≥30 ng/mL) in 66.5% and <20 ng/mL in 21.8% of patients at the third month in both groups. None developed hypercalcemia and/or hypercalciuria. Nephrolithiasis was not detected in any patient. This study showed that both doses of stoss therapy used in the treatment of vitamin D insufficiency/deficiency are effective and safe. However, an optimal level of 25-OH-D cannot be maintained for more than three months.

Effect of urine pH and magnesium on calcium oxalate saturation.

PubMed

Ferrè, Silvia; Grange, Jacob S; Adams-Huet Ms, Beverley; Moe, Orson W; Maalouf, Naim M

2017-11-01

Hypomagnesiuria is a common biochemical finding in patients with calcium oxalate (CaOx) nephrolithiasis. Clinical trials using Mg supplements as therapy against CaOx stones have shown mixed results. We tested the effect of Mg administration in healthy subjects under conditions of controlled urine pH (UpH) on urinary Ca excretion rate (UCaV) and CaOx saturation. This is a 4-phase, double blind, placebo-controlled, metabolic crossover study performed in healthy volunteers. Mg lactate (MgLact 2 ) was used as Mg supplement. High UpH and low UpH were achieved by administration of potassium citrate (K 3 Citrate) and ammonium chloride (NH 4 Cl), respectively, with potassium balance maintained by KCl. Eight participants completed 4 phases of study. The interventions successfully modulated 24-h UpH (7.0 ± 0.4 vs. 5.7 ± 0.6 in high vs low pH phases; P<0.001). Administration of MgLact 2 increased UMgV [175.8 ± 40.2 vs 93.4 ± 39.7 mg/day (7.2 ± 1.7 vs 3.8 ± 1.6 mmol/day), high vs low Mg phase; P<0.001], and increased pH both at low (5.6 ± 0.5 to 5.8 ± 0.7; P = 0.02) and high UpH (6.9 ± 0.4 to 7.0 ± 0.3; P = 0.01). At a given urine pH, Mg supplementation marginally increased UCaV, but did not alter UOxV or CaOx saturation. Provision of an alkali load significantly lowered UCaV and saturation of CaOx at any level of UMgV. Compared to changes in UMgV, changes in UpH play a more significant role in determining urine CaOx saturation in healthy subjects. Mg supplements are likely to reduce CaOx saturation if they also raise urine pH.

Renaissance mummies in Italy.

PubMed

Fornaciari, G

1999-01-01

The paleopathological study of 40 Italian Renaissance mummies has allowed us to perform about 20 diagnoses, of which 5 concern infectious (smallpox, hepatitis, condyloma, syphilis and pneumonia), 4 metabolic (obesity, atherosclerosis, gallstones and uric acid nephrolithiasis), 2 articular (DISH and rheumatoid arthritis) and 2 neoplastic (skin apithelioma and colon adenocarcinoma) diseases. The mummy of an anonymous child, dated back to the 16th century (C14=1569 +/- 60), presented a diffuse vesiculo-pustular exanthema. Macroscopic aspects and regional distribution suggested smallpox, while EM reavealed many egg-shaped, virus-like particles (250 x 50 nm), with a central dense core. Following incubation with anti-smallpox virus antiserum and protein A-gold complex immunostaining, the particles resulted completely covered with protein A-gold. These results clearly show that this Neapolitan child died of a severe form of smallpox some four centuries ago. The mummy of Maria of Aragon, Marquise of Vasto (1503-1568), reavealed on the left arm an oval, cutaneous ulcer (15x10 nm) with linen dressing. Indirect immunofluorescence with anti-treponema pallidum antibody identified a large number of filaments with the morphological characteristics of fluorescent treponemes. EM evidenced typical spirochetes, with axial fibril. These findings clearly demonstrate a treponemal, probably venereal, infection. The mummy of Ferrante I of Aragon, King of Naples (1431-1494), revealed an adenocarcinoma extensively infiltrating the muscles of the small pelvis. A molecular study of the neoplastic tissue evidenced a typical mutation of the K-ras gene codon 12:the normal sequence GGT (glycine) was altered into GAT (aspartic acid). At present this genetic change is the most frequent mutation of the K-ras gene in sporadic colorectal cancer. The alimentary "environment" of the Neapolitan court of the XV century, with its abundance of natural alimentary alkylating agents, well explains this acquired mutation. These and other diseases as, for example, a fatal puerperal complication, a thyroid goiter, a case of Wilson's cirrhosis, some cases of anthracosis and other peculiar traumatic conditions, such as a mortal stab-wound, can elucidate the pathocenosis of the wealthy classes of the Italian Renaissance.

Impaired calcium sensing distinguishes primary hyperparathyroidism (PHPT) patients with low bone mineral density.

PubMed

Weber, Thomas J; Koh, James; Thomas, Samantha M; Hogue, Joyce A; Scheri, Randall P; Roman, Sanziana A; Sosa, Julie A

2017-09-01

A subset of PHPT patients exhibit a more severe disease phenotype characterized by bone loss, fractures, recurrent nephrolithiasis, and other dysfunctions, but the underlying reasons for this disparity in clinical presentation remain unknown. We sought to identify new mechanistic indices that could inform more personalized management of PHPT. Pre-, peri-, and postoperative data and demographic, clinical, and pathological information from patients undergoing parathyroidectomy for PHPT were collected. Univariate and partial Spearman correlation was used to estimate the association of parathyroid tumor calcium sensing capacity with select variables. An unselected series of 237 patients aged >18years and undergoing parathyroidectomy for PHPT were enrolled. Calcium sensing capacity, expressed as the concentration required for half-maximal biochemical response (EC50), was evaluated in parathyroid tumors from an unselected series of 74 patients and assessed for association with clinical parameters. The hypothesis was that greater disease severity would be associated with attenuated calcium sensitivity and biochemically autonomous parathyroid tumor behavior. Parathyroid tumors segregated into two distinct groups of calcium responsiveness (EC50<3.0 and ≥3.0mM). The low EC50 group (n=27) demonstrated a mean calcium EC50 value of 2.49mM [95% confidence interval (CI): 2.43-2.54mM], consistent with reference normal activity. In contrast, the high EC50 group (n=47) displayed attenuated calcium sensitivity with a mean EC50 value of 3.48mM [95% CI: 3.41-3.55mM]. Retrospective analysis of the clinical registry data suggested that high calcium EC50 patients presented with a more significant preoperative bone mineral density (BMD) deficit with a t-score of -2.7, (95% CI: -3.4 to -1.9) versus 0.9, (95% CI: -2.1 to -0.4) in low EC50 patients (p<0.001). After adjusting for gender, age, BMI, 25 OH vitamin D level and preoperative iPTH, lowest t-score and calcium EC50 were inversely correlated, with a partial Spearman correlation coefficient of -0.35 (p=0.02). Impaired calcium sensing in parathyroid tumors is selectively observed in a subset of patients with more severe bone mineral density deficit. Assessment of parathyroid tumor biochemical behavior may be a useful predictor of disease severity as measured by bone mineral density in patients with PHPT. Copyright © 2017 Elsevier Inc. All rights reserved.

Ureteral stone location at emergency room presentation with colic.

PubMed

Eisner, Brian H; Reese, Adam; Sheth, Sonali; Stoller, Marshall L

2009-07-01

It is thought that the 3 narrowest points of the ureter are the ureteropelvic junction, the point where the ureter crosses anterior to the iliac vessels and the ureterovesical junction. Textbooks describe these 3 sites as the most likely places for ureteral stones to lodge. We defined the stone position in the ureter when patients first present to the emergency department with colic. We retrospectively reviewed the records of 94 consecutive patients who presented to the emergency department with a chief complaint of colic and computerized tomography showing a single unilateral ureteral calculus. Axial, coronal and 3-dimensional reformatted computerized tomography scans were evaluated, and stone position and size (maximal axial and coronal diameters) were recorded, as were the position of the ureteropelvic junction, the iliac vessels (where the ureter crosses anterior to the iliac vessels) and the ureterovesical junction. Patients with a history of nephrolithiasis, shock wave lithotripsy, ureteroscopy or percutaneous nephrolithotripsy were excluded from study. Statistical analysis was performed using Student's t test and Pearson's correlation coefficient. At the time of emergency department presentation for colic ureteral stone position was the ureteropelvic junction in 10.6% cases, between the ureteropelvic junction and the iliac vessels in 23.4%, where the ureter crosses anterior to the iliac vessels in 1.1%, between the iliac vessels and the ureterovesical junction in 4.3% and at the ureterovesical junction in 60.6%. Proximal calculi had a greater axial diameter than distal calculi (mean 6.1 vs 4.0 mm) and a greater coronal diameter than distal calculi (6.8 vs 4.1 mm, each p <0.001). Axial and coronal diameters moderately correlated with stone position (r = -0.47 and -0.55, respectively, each p <0.001). Proximal ureteral stones were larger in axial and coronal diameter than distal ureteral stones. At emergency department presentation for colic most stones were at the ureterovesical junction and in the proximal ureter between the ureteropelvic junction and the iliac vessels. A few stones were at the ureteropelvic junction and only 1 lodged at the level where the ureter crosses anterior to the iliac vessels, despite the literature stating that these locations are 2 of the 3 most likely places for stones to become lodged.

Predicting Patients with Inadequate 24- or 48-Hour Urine Collections at Time of Metabolic Stone Evaluation.

PubMed

McGuire, Barry B; Bhanji, Yasin; Sharma, Vidit; Frainey, Brendan T; McClean, Megan; Dong, Caroline; Rimar, Kalen; Perry, Kent T; Nadler, Robert B

2015-06-01

We aimed to understand the characteristics of patients who are less likely to submit adequate urine collections at metabolic stone evaluation. Inadequate urine collection was defined using two definitions: (1) Reference ranges for 24-hour creatinine/kilogram (Cr/24) and (2) discrepancy in total 24-hour urine Cr between 24-hour urine collections. There were 1502 patients with ≥1 kidney stone between 1998 and 2014 who performed a 24- or 48-hour urine collection at Northwestern Memorial Hospital and who were identified retrospectively. Multivariate analysis was performed to analyze predictor variables for adequate urine collection. A total of 2852 urine collections were analyzed. Mean age for males was 54.4 years (range 17-86), and for females was 50.2 years (range 8-90). One patient in the study was younger than 17 years old. (1) Analysis based on the Cr 24/kg definition: There were 50.7% of patients who supplied an inadequate sample. Females were nearly 50% less likely to supply an adequate sample compared with men, P<0.001. Diabetes (odds ratio [OR] 1.42 [1.04-1.94], P=0.026) and vitamin D supplementation (OR 0.64 [0.43-0.95], P=0.028) predicted receiving an adequate/inadequate sample, respectively. (2) Analysis based on differences between total urinary Cr: The model was stratified based on percentage differences between samples up to 50%. At 10%, 20%, 30%, 40%, and 50% differences, inadequate collections were achieved in 82.8%, 66.9%, 51.7%, 38.5%, and 26.4% of patients, respectively. Statistical significance was observed based on differences of ≥40%, and this was defined as the threshold for an inadequate sample. Female sex (OR 0.73 [0.54-0.98], P=0.037) predicted supplying inadequate samples. Adequate collections were more likely to be received on a Sunday (OR 1.6 [1.03-2.58], P=0.038) and by sedentary workers (OR 2.3 [1.12-4.72], P=0.023). Urine collections from patients during metabolic evaluation for nephrolithiasis may be considered inadequate based on two commonly used clinical definitions. This may have therapeutic or economic ramifications and the propensity for females to supply inadequate samples should be investigated further.

Diet and renal stone formation.

PubMed

Trinchieri, A

2013-02-01

The relationship between diet and the formation of renal stones is demonstrated, but restrictive diets do not take into account the complexity of metabolism and the complex mechanisms that regulate the saturation and crystallization processes in the urine. The restriction of dietary calcium can reduce the urinary excretion of calcium but severe dietary restriction of calcium causes hyperoxaluria and a progressive loss of bone mineral component. Furthermore urinary calcium excretion is influenced by other nutrients than calcium as sodium, potassium, protein and refined carbohydrates. Up to 40% of the daily excretion of oxalate in the urine is from dietary source, but oxalate absorption in the intestine depends linearly on the concomitant dietary intake of calcium and is influenced by the bacterial degradation by several bacterial species of intestinal flora. A more rational approach should be based on the cumulative effects of foods and different dietary patterns on urinary saturation rather than on the effect of single nutrients. A diet based on a adequate intake of calcium (1000-1200 mg per day) and containment of animal protein and salt can decrease significantly urinary supersaturation for calcium oxalate and reduce the relative risk of stone recurrence in hypercalciuric renal stone formers. The DASH-style diet that is high in fruits and vegetables, moderate in low-fat dairy products and low in animal proteins and salt is associated with a lower relative supersaturation for calcium oxalate and a marked decrease in risk of incident stone formation. All the diets above mentioned have as a common characteristic the reduction of the potential acid load of the diet that can be correlated with a higher risk of recurrent nephrolithiasis, because the acid load of diet is inversely related to urinary citrate excretion. The restriction of protein and salt with an adequate calcium intake seem to be advisable but should be implemented with the advice to increase the intake of vegetables that can carry a plentiful supply of alkali that counteract the acid load coming from animal protein. New prospective studies to evaluate the effectiveness of the diet for the prevention of renal stones should be oriented to simple dietary advices that should be focused on a few specific goals easily controlled by means of self-evaluation tools, such as the LAKE food screener.

Phenotypic and functional analysis of human SLC26A6 variants in patients with familial hyperoxaluria and calcium oxalate nephrolithiasis.

PubMed

Monico, Carla G; Weinstein, Adam; Jiang, Zhirong; Rohlinger, Audrey L; Cogal, Andrea G; Bjornson, Beth B; Olson, Julie B; Bergstralh, Eric J; Milliner, Dawn S; Aronson, Peter S

2008-12-01

Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in 2 separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 (PH1) and 2 (PH2), respectively. Studies of null Slc26a6(-/-) mice have shown a phenotype of hyperoxaluria, hyperoxalemia, and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may cause or modify hyperoxaluria in humans. Cross-sectional case-control. Cases were recruited from the International Primary Hyperoxaluria Registry. Control DNA samples were from a pool of adult subjects who identified themselves as being in good health. PH1, PH2, and non-PH1/PH2 genotypes in cases. Homozygosity or compound heterozygosity for SLC26A6 variants. Functional expression of oxalate transport in Xenopus laevis oocytes. 80 PH1, 6 PH2, 8 non-PH1/PH2, and 96 control samples were available for SLC26A6 screening. A rare variant, c.487C-->T (p.Pro163Ser), was detected solely in 1 non-PH1/PH2 pedigree, but this variant failed to segregate with hyperoxaluria, and functional studies of oxalate transport in Xenopus oocytes showed no transport defect. No other rare variant was identified specifically in non-PH1/PH2. Six additional missense variants were detected in controls and cases. Of these, c.616G-->A (p.Val206Met) was most common (11%) and showed a 30% reduction in oxalate transport. To test p.Val206Met as a potential modifier of hyperoxaluria, we extended screening to PH1 and PH2. Heterozygosity for this variant did not affect plasma or urine oxalate levels in this population. We did not have a sufficient number of cases to determine whether homozygosity for p.Val206Met might significantly affect urine oxalate. SLC26A6 was effectively ruled out as the disease gene in this non-PH1/PH2 cohort. Taken together, our studies are the first to identify and characterize SLC26A6 variants in patients with hyperoxaluria. Phenotypic and functional analysis excluded a significant effect of identified variants on oxalate excretion.

Phenotypic and Functional Analysis of Human SLC26A6 Variants in Patients With Familial Hyperoxaluria and Calcium Oxalate Nephrolithiasis

PubMed Central

Monico, Carla G.; Weinstein, Adam; Jiang, Zhirong; Rohlinger, Audrey L.; Cogal, Andrea G.; Bjornson, Beth B.; Olson, Julie B.; Bergstralh, Eric J.; Milliner, Dawn S.; Aronson, Peter S.

2008-01-01

Background Urinary oxalate is a major risk factor for calcium oxalate stones. Marked hyperoxaluria arises from mutations in two separate loci, AGXT and GRHPR, the causes of primary hyperoxaluria (PH) types 1 and 2, respectively. Studies of null Slc26a6 (−/−) mice have revealed a phenotype of hyperoxaluria, hyperoxalemia and calcium oxalate urolithiasis, leading to the hypothesis that SLC26A6 mutations may cause or modify hyperoxaluria in humans. Study Design Cross-sectional, case-control. Setting & Participants Cases were recruited from the International Primary Hyperoxaluria Registry. Control DNA samples were from a pool of adult subjects who identified themselves as being in good health. Predictor PH1, PH2, non-PH1/PH2 genotypes in cases. Outcomes & Measures Homozygosity or compound heterozygosity for SLC26A6 variants. Functional expression of oxalate transport in Xenopus oocytes. Results A total of 80 PH1, 6 PH2, 8 non-PH1/PH2 and 96 control samples were available for SLC26A6 screening. A rare variant, c.487C>T (p.Pro163Ser) was detected solely in one non-PH1/PH2 pedigree but this variant failed to segregate with hyperoxaluria, and functional studies of oxalate transport in Xenopus oocytes revealed no transport defect. No other rare variant was identified specifically in non-PH1/PH2. Six additional missense variants were detected in controls and in cases. Of these, c.616G>A (p.Val206Met) was most common (11%), and showed a 30% reduction in oxalate transport. To test p.Val206Met as a potential modifier of hyperoxaluria, we extended screening to PH1 and PH2. Heterozygosity for this variant did not affect plasma or urine oxalate in this population. Limitations We did not have a sufficient number of cases to determine whether homozygosity for p.Val206Met might significantly affect urine oxalate. Conclusions SLC26A6 was effectively ruled out as the disease gene in this non-PH1/PH2 cohort. Taken together, our studies are the first to identify and characterize SLC26A6 variants in hyperoxaluria. Phenotypic and functional analysis excluded a significant effect of identified variants on oxalate excretion. PMID:18951670

Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5

PubMed Central

Loh, Nellie Y.; Verkaart, Sjoerd; Tammaro, Paolo; Gorvin, Caroline M.; Stechman, Michael J.; Ahmad, Bushra N.; Hannan, Fadil M.; Piret, Sian E.; Evans, Holly; Bellantuono, Ilaria; Hough, Tertius A.; Fraser, William D.; Hoenderop, Joost G. J.; Ashcroft, Frances M.; Brown, Steve D. M.; Bindels, René J. M.; Cox, Roger D.; Thakker, Rajesh V.

2013-01-01

Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of large families, and to facilitate such studies, we screened for hypercalciuria in mice from an N-ethyl-N-nitrosourea mutagenesis programme. We identified a mouse with autosomal dominant hypercalciuria (HCALC1). Linkage studies mapped the Hcalc1 locus to a 11.94 Mb region on chromosome 6 containing the transient receptor potential cation channel, subfamily V, members 5 (Trpv5) and 6 (Trpv6) genes. DNA sequence analysis of coding regions, intron-exon boundaries and promoters of Trpv5 and Trpv6 identified a novel T to C transition in codon 682 of TRPV5, mutating a conserved serine to a proline (S682P). Compared to wild-type littermates, heterozygous (Trpv5 682P/+) and homozygous (Trpv5 682P/682P) mutant mice had hypercalciuria, polyuria, hyperphosphaturia and a more acidic urine, and ∼10% of males developed tubulointerstitial nephritis. Trpv5 682P/682P mice also had normal plasma parathyroid hormone but increased 1,25-dihydroxyvitamin D3 concentrations without increased bone resorption, consistent with a renal defect for the hypercalciuria. Expression of the S682P mutation in human embryonic kidney cells revealed that TRPV5-S682P-expressing cells had a lower baseline intracellular calcium concentration than wild-type TRPV5-expressing cells, suggesting an altered calcium permeability. Immunohistological studies revealed a selective decrease in TRPV5-expression from the renal distal convoluted tubules of Trpv5 682P/+ and Trpv5 682P/682P mice consistent with a trafficking defect. In addition, Trpv5682P/682P mice had a reduction in renal expression of the intracellular calcium-binding protein, calbindin-D28K, consistent with a specific defect in TRPV5-mediated renal calcium reabsorption. Thus, our findings indicate that the TRPV5 S682P mutant is functionally significant and study of HCALC1, a novel model for autosomal dominant hypercalciuria, may help further our understanding of renal calcium reabsorption and hypercalciuria. PMID:23383183

Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.

PubMed

Loh, Nellie Y; Bentley, Liz; Dimke, Henrik; Verkaart, Sjoerd; Tammaro, Paolo; Gorvin, Caroline M; Stechman, Michael J; Ahmad, Bushra N; Hannan, Fadil M; Piret, Sian E; Evans, Holly; Bellantuono, Ilaria; Hough, Tertius A; Fraser, William D; Hoenderop, Joost G J; Ashcroft, Frances M; Brown, Steve D M; Bindels, René J M; Cox, Roger D; Thakker, Rajesh V

2013-01-01

Hypercalciuria is a major cause of nephrolithiasis, and is a common and complex disorder involving genetic and environmental factors. Identification of genetic factors for monogenic forms of hypercalciuria is hampered by the limited availability of large families, and to facilitate such studies, we screened for hypercalciuria in mice from an N-ethyl-N-nitrosourea mutagenesis programme. We identified a mouse with autosomal dominant hypercalciuria (HCALC1). Linkage studies mapped the Hcalc1 locus to a 11.94 Mb region on chromosome 6 containing the transient receptor potential cation channel, subfamily V, members 5 (Trpv5) and 6 (Trpv6) genes. DNA sequence analysis of coding regions, intron-exon boundaries and promoters of Trpv5 and Trpv6 identified a novel T to C transition in codon 682 of TRPV5, mutating a conserved serine to a proline (S682P). Compared to wild-type littermates, heterozygous (Trpv5(682P/+)) and homozygous (Trpv5(682P/682P)) mutant mice had hypercalciuria, polyuria, hyperphosphaturia and a more acidic urine, and ∼10% of males developed tubulointerstitial nephritis. Trpv5(682P/682P) mice also had normal plasma parathyroid hormone but increased 1,25-dihydroxyvitamin D(3) concentrations without increased bone resorption, consistent with a renal defect for the hypercalciuria. Expression of the S682P mutation in human embryonic kidney cells revealed that TRPV5-S682P-expressing cells had a lower baseline intracellular calcium concentration than wild-type TRPV5-expressing cells, suggesting an altered calcium permeability. Immunohistological studies revealed a selective decrease in TRPV5-expression from the renal distal convoluted tubules of Trpv5(682P/+) and Trpv5(682P/682P) mice consistent with a trafficking defect. In addition, Trpv5(682P/682P) mice had a reduction in renal expression of the intracellular calcium-binding protein, calbindin-D(28K), consistent with a specific defect in TRPV5-mediated renal calcium reabsorption. Thus, our findings indicate that the TRPV5 S682P mutant is functionally significant and study of HCALC1, a novel model for autosomal dominant hypercalciuria, may help further our understanding of renal calcium reabsorption and hypercalciuria.

Do JJ Stents Increase the Effectiveness of Extracorporeal Shock Wave Lithotripsy for Pediatric Renal Stones?

PubMed

Gündüz, Metin; Sekmenli, Tamer; Ciftci, İlhan; Elmacı, Ahmet Midhat

2017-01-01

We aimed to evaluate the effects of preoperative urinary catheterization in nephrolithiasis treatment with extracorporeal shock wave lithotripsy (SWL). Patients admitted to the Department of Pediatric Surgery for renal stones between June 2012 and June 2014 were evaluated retrospectively. Patients were divided into 2 groups based on JJ stent placements. Group 1 did not receive JJ stents, while group 2 did. The recorded demographic data for each group included age, gender, stone size, location, sessions, and complications. The Elmed Complit ESWL system was used with 11-13 kV, and 1,000-1,200 shots in patients 2-4 years of age, and 11-14 kV, and 1,000-1,500 shots for patients over 4 years. In group 1, 18 sessions of SWL were performed on 8 female and 2 male children with a mean age of 4.5 (range 2-12) years and stone diameter of 9 (range 7-15) mm. The locations of the renal stones were in the upper pole in 1 patient, 7 in the lower pole, and 2 in the pelvis renalis. Postoperatively, 1 patient had hematuria, 2 had dysuria, and one had a stone in the external urethral meatus. Eighty percent of patients were stone free; there were no fragmentations in 2 patients, and 1 patient discontinued treatment. In group 2, 15 SWL sessions were performed on 5 female and 5 male children aged 4 (range 3-5) and the stone diameter was 9 (range 7-16) mm. The locations of the renal stones were in the upper pole in 6 patients, in the lower pole in 3 patients, and in the ureteropelvic junction in one patient. JJ stents were placed in all patients preoperatively. Postoperatively, 3 patients had hematuria and one had dysuria. At the end of the study, all of the patients were stone free. Statistically, there were no differences in age, gender, stone size, location, and the number of sessions. Our results indicate that SWL without preoperative ureteral stenting is an effective and safe procedure that can be carried out in the pediatric population. Preoperative JJ stenting is unnecessary in patients, especially in those with smaller stone diameters. © 2016 S. Karger AG, Basel.

MOnitored supplementation of VItamin D in preterm infants (MOSVID trial): study protocol for a randomised controlled trial.

PubMed

Kołodziejczyk, Alicja; Borszewska-Kornacka, Maria K; Seliga-Siwecka, Joanna

2017-09-11

The pivotal role of vitamin D (vit D) in skeletal health is well known. Neonatal vit D storage at birth is dependent on maternal levels, and newborns receive 50-70% of their mother's 25-hydroxyvitamin D [25(OH)D]. Deficiency of vit D can lead to prematurity bone disease, with an incidence of up to 55% in infants weighing < 1000 g. The aim of this study is to assess the effectiveness of monitored supplementation of vit D in a population of preterm infants. Preterm infants born at 24-32 weeks of gestation will be recruited within the first 7 days of life. Depending on the type of feeding, and after reaching partial enteral feeding or at 7 days of life, vit D supplementation will consist of 500 IU and an additional 150-300 IU/kg included in human milk fortifiers (if fed exclusively with breast milk) or 190 IU/kg in milk formulas. Subjects will be randomised to either monitored (with an option of dose modification based on 25(OH)D levels as per protocol) or standard therapy up to 52 weeks of post-conceptional age (PCA). The primary outcome measure will be the number of neonates with deficiency or excess levels of 25(OH)D at 40  ±2 weeks of PCA. Additional 25(OH)D levels will be measured at birth, at 4 and 8 weeks of age, and/or at 35 and 52  ±2 weeks of PCA. Secondary objectives will include the incidence of osteopenia, nephrocalcinosis and nephrolithiasis. Serum parameters of calcium phosphorus metabolism will also be measured. Despite multiple years of research and numerous publications, there is still a lack of consensus in regard to how much vit D infants should receive and how long they should receive it. Because 80% of calcium and phosphorus placental transfer occurs between 24 and 40 weeks of gestation, preterm infants are especially prone to adverse effects of vit D insufficiency. However, both inadequate and excessive amounts of vit D may be unsafe and lead to serious health issues. The results of our study may shed new light on these concerns and contribute to optimising vit D supplementation. ClinicalTrials.gov, NCT03087149 . Registered on 15 March 2017.

Vitamin D supplementation for prevention of cancer in adults.

PubMed

Bjelakovic, Goran; Gluud, Lise Lotte; Nikolova, Dimitrinka; Whitfield, Kate; Krstic, Goran; Wetterslev, Jørn; Gluud, Christian

2014-06-23

The evidence on whether vitamin D supplementation is effective in decreasing cancers is contradictory. To assess the beneficial and harmful effects of vitamin D supplementation for prevention of cancer in adults. We searched the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, LILACS, Science Citation Index Expanded, and the Conference Proceedings Citation Index-Science to February 2014. We scanned bibliographies of relevant publications and asked experts and pharmaceutical companies for additional trials. We included randomised trials that compared vitamin D at any dose, duration, and route of administration versus placebo or no intervention in adults who were healthy or were recruited among the general population, or diagnosed with a specific disease. Vitamin D could have been administered as supplemental vitamin D (vitamin D₃ (cholecalciferol) or vitamin D₂ (ergocalciferol)), or an active form of vitamin D (1α-hydroxyvitamin D (alfacalcidol), or 1,25-dihydroxyvitamin D (calcitriol)). Two review authors extracted data independently. We conducted random-effects and fixed-effect model meta-analyses. For dichotomous outcomes, we calculated the risk ratios (RRs). We considered risk of bias in order to assess the risk of systematic errors. We conducted trial sequential analyses to assess the risk of random errors. Eighteen randomised trials with 50,623 participants provided data for the analyses. All trials came from high-income countries. Most of the trials had a high risk of bias, mainly for-profit bias. Most trials included elderly community-dwelling women (aged 47 to 97 years). Vitamin D was administered for a weighted mean of six years. Fourteen trials tested vitamin D₃, one trial tested vitamin D₂, and three trials tested calcitriol supplementation. Cancer occurrence was observed in 1927/25,275 (7.6%) recipients of vitamin D versus 1943/25,348 (7.7%) recipients of control interventions (RR 1.00 (95% confidence interval (CI) 0.94 to 1.06); P = 0.88; I² = 0%; 18 trials; 50,623 participants; moderate quality evidence according to the GRADE instrument). Trial sequential analysis (TSA) of the 18 vitamin D trials shows that the futility area is reached after the 10th trial, allowing us to conclude that a possible intervention effect, if any, is lower than a 5% relative risk reduction. We did not observe substantial differences in the effect of vitamin D on cancer in subgroup analyses of trials at low risk of bias compared to trials at high risk of bias; of trials with no risk of for-profit bias compared to trials with risk of for-profit bias; of trials assessing primary prevention compared to trials assessing secondary prevention; of trials including participants with vitamin D levels below 20 ng/mL at entry compared to trials including participants with vitamin D levels of 20 ng/mL or more at entry; or of trials using concomitant calcium supplementation compared to trials without calcium. Vitamin D decreased all-cause mortality (1854/24,846 (7.5%) versus 2007/25,020 (8.0%); RR 0.93 (95% CI 0.88 to 0.98); P = 0.009; I² = 0%; 15 trials; 49,866 participants; moderate quality evidence), but TSA indicates that this finding could be due to random errors. Cancer occurrence was observed in 1918/24,908 (7.7%) recipients of vitamin D₃ versus 1933/24,983 (7.7%) in recipients of control interventions (RR 1.00 (95% CI 0.94 to 1.06); P = 0.88; I² = 0%; 14 trials; 49,891 participants; moderate quality evidence). TSA of the vitamin D₃ trials shows that the futility area is reached after the 10th trial, allowing us to conclude that a possible intervention effect, if any, is lower than a 5% relative risk reduction. Vitamin D₃ decreased cancer mortality (558/22,286 (2.5%) versus 634/22,206 (2.8%); RR 0.88 (95% CI 0.78 to 0.98); P = 0.02; I² = 0%; 4 trials; 44,492 participants; low quality evidence), but TSA indicates that this finding could be due to random errors. Vitamin D₃ combined with calcium increased nephrolithiasis (RR 1.17 (95% CI 1.03 to 1.34); P = 0.02; I² = 0%; 3 trials; 42,753 participants; moderate quality evidence). TSA, however, indicates that this finding could be due to random errors. We did not find any data on health-related quality of life or health economics in the randomised trials included in this review. There is currently no firm evidence that vitamin D supplementation decreases or increases cancer occurrence in predominantly elderly community-dwelling women. Vitamin D₃ supplementation decreased cancer mortality and vitamin D supplementation decreased all-cause mortality, but these estimates are at risk of type I errors due to the fact that too few participants were examined, and to risks of attrition bias originating from substantial dropout of participants. Combined vitamin D₃ and calcium supplements increased nephrolithiasis, whereas it remains unclear from the included trials whether vitamin D₃, calcium, or both were responsible for this effect. We need more trials on vitamin D supplementation, assessing the benefits and harms among younger participants, men, and people with low vitamin D status, and assessing longer duration of treatments as well as higher dosages of vitamin D. Follow-up of all participants is necessary to reduce attrition bias.

Nephrogenic adenoma of the urinary tract: A 6-year single center experience.

PubMed

Turcan, Didem; Acikalin, Mustafa Fuat; Yilmaz, Evrim; Canaz, Funda; Arik, Deniz

2017-07-01

Nephrogenic adenoma is an uncommon benign lesion that occurs at several sites in urinary tract, from the renal pelvis to urethra, with the highest frequency in urinary bladder. Nephrogenic adenoma displays a broad spectrum of architectural and cytological features. Hence, recognition of its characteristic histopathological features is needed to distinguish this lesion from its mimickers. A retrospective series of 21 cases of nephrogenic adenoma in 18 patients, which were diagnosed in our department between 2010 and 2016, were analyzed. All histological slides were reviewed by two pathologists and the diagnosis of each case was confirmed. Immunohistochemistry was performed for PAX-8 in all cases. CK7, PAX-2, PSA, p53, p63, GATA-3 and α-methylacyl-CoA racemase (AMACR) were applied in problematic cases. The most common location of the lesion was urinary bladder (14 patients) followed by renal pelvis (2 patients), ureter (1 patient) and urethra (1 patient). A history of urothelial carcinoma and repeated TUR procedures were observed in 12 patients. There were 2 pediatric patients aged 3 years. Both of them had undergone previous urosurgery because of megaureter in one and bladder exstrophy in the other. Other clinical antecedents included bladder diverticulum (1 patient), cystitis (1 patient) and nephrolithiasis (1 patient). Recurrence of lesion was seen in two patients (once in one case and twice in the other one). The median time to disease recurrence in these patients was 11 months (range, 2-20 months). Histologically, the lesions exhibited various morphological findings, with mixed (15 cases, 71.4%), pure tubular (3 cases, 14.3%), pure papillary (2 cases, 9.5%) and pure flat (1 case, 4.8%) growth patterns. Of the 15 cases with mixed patterns, 8 cases were tubulocystic and flat, 3 cases were tubular and flat, 2 cases were tubular, papillary and flat, 1 case was tubulocystic, papillary and flat, and 1 case was tubular and papillary. Flat pattern was observed in 15 cases (71.4%). It was seen in association with other patterns in 14 cases (mixed morphology) and purely in 1 case. Our findings suggested that the flat pattern is a frequent finding in nephrogenic adenomas. Notably one case in this series showed superficial extension into bladder muscularis propria. Histologically nephrogenic adenoma may simulate a variety of malignancies. Awareness of characteristic morphologic features of nephrogenic adenoma is needed to diagnose this lesion correctly. Copyright © 2017 Elsevier GmbH. All rights reserved.

Demographic and clinical features of gout patients in Turkey: a multicenter study.

PubMed

Öztürk, Mehmet Akif; Kaya, Arif; Şenel, Soner; Dönmez, Salim; Balkarlı, Ayşe; Çobankara, Veli; Erhan, Çiğdem; Sayarlıoğlu, Mehmet; Ugan, Yunus; Tunç, Ş Ercan; Pehlivan, Yavuz; Kısacık, Bünyamin; Tufan, Abdurrahman; Onat, Ahmet Mesut; Tezcan, Engin; Yıldırım Çetin, Gözde; Pamuk, Omer Nuri

2013-04-01

Gout results from multifactor interactions between gender, age, genetic and environmental factors. Environmental factors underlying gout and precipitating factors triggering acute attacks might vary in different populations with different lifestyles. In this study, we aimed to collect data regarding the demographic and clinical features, comorbid factors, and precipitating factors associated with the initiation of acute attacks in gout patients in Turkey. A total of 312 patients were included in this study (mean age, 58.8 ± 13.8 years; female/male ratio, 55/257). The demographic features, alcohol intake, clinical and laboratory features, and comorbid conditions including obesity, diabetes mellitus, hyperlipidemia, hypertension, and coronary heart disease were noted in a standard questionnaire. Precipitating factors initiating acute attacks (if any) were also noted. The patients were divided into 4 groups according to the region of location as central Anatolian region, southeast Anatolian region, Aegean region, and Trakya region. Our results were compared according to the gender and the location of the patients. The mean age at the start of the symptoms was 10 years higher in women (60.4 ± 14.8 and 50.6 ± 13.5 years in women and men, respectively, p < 0.001).Obesity was present in 40.1 %, diabetes mellitus in 17.9 %, hyperlipidemia in 30.1 %, hypertension in 53.5 %, coronary artery disease in 17 %, and nephrolithiasis in 21.8 % of patients. Precipitating factors triggering gout flares were as follows: diet (high consumption of meat or fish) in 46.5 %, alcohol consumption in 15.7 %, diuretics in 8.3 %, diet or diuretics in 5.1 %, diet or alcohol in 4.5 %, diet or alcohol or diuretics in 1.6 %, others in 4.2 %, and none in 14.1 %. The presence of diabetes and diuretic use was more common among women. Use of diuretics is a more common trigger for gout flares among women. On the other hand, various comorbid conditions, such as obesity and hypertension, and triggers for gout flares may differ between patients living in different geographic regions. In summary, we reported the first data regarding clinical and demographic characteristics of gout in Turkey. The majority of our patients could describe at least one "trigger" that initiated gout flare. Both comorbid conditions and triggers of attack might differ between men and women, and in different geographic areas. Better knowledge of the modifiable risk factors can be useful for the management strategy to optimize long-term patient outcomes in local clinics.

International comparison of cost effectiveness of medical management strategies for nephrolithiasis.

PubMed

Lotan, Yair; Cadeddu, Jeffrey A; Pearle, Margaret S

2005-06-01

Although medical therapy is known to reduce the risk of kidney stone recurrence, the cost effectiveness of medical prophylaxis is controversial. We evaluated medical treatment strategies including dietary measures (conservative), empiric medical therapy (empiric) or directed medical therapy (directed) based on comprehensive metabolic evaluation (CME) for patients with recurrent kidney stones, and compared the costs of these strategies using cost data from ten different countries. We previously established rates of stone formation in recurrent stone-formers, risk reduction of medical therapy, sensitivity of CME and rates of spontaneous stone passage from a comprehensive literature search (Lotan et al. 2004 J Urol 172: 2275). The costs of medication, surgical therapy, emergency room visits and CME for ten different countries were obtained from a published report of an international cost survey (Chandhoke 2002 J Urol 168: 937) as well as from our own county hospital in the US. Medication costs in the US were obtained from two national pharmacy chains. A decision tree model was created to compare the costs of different treatment strategies assuming cost accrual for metabolic evaluation, medical therapy and surgery or emergency room visits. For medical therapy, we assumed the distribution of medication use described in the published report, consisting of potassium citrate (60%), thiazide (30%) and allopurinol (10%). A nearly 20-fold difference in the costs of shock-wave lithotripsy, ureteroscopy and medication was found among different countries. From the model (US dollars/patient/year), conservative therapy alone was the most cost effective approach followed by empiric and directed medical therapy in all countries except in the UK. In the UK, the cost of drug therapy (estimated at dollar 29/patient/year) resulted in empiric therapy being the most cost effective strategy for recurrent stone formers. The low likelihood of surgical intervention, as well as the low relative cost of surgery to medication, contributed to the higher cost of empiric and directed medical therapy strategies. Of note, despite the higher cost, drug treatment strategies were associated with significantly lower stone recurrence rates. We found that drug treatment strategies are more costly than conservative treatment but produce good control of stone formation. In all but one country (UK), dietary therapy was the most cost effective approach due to the relatively low cost of surgery compared with medication. The differential resource allocation to different components of a healthcare system (i.e. subsidized medication versus surgical treatment) in different countries determines the cost effectiveness of various treatment strategies.

Ultra-mini-percutaneous nephrolithotomy in pediatric nephrolithiasis: both low pressure and high efficiency.

PubMed

Dede, Onur; Sancaktutar, Ahmet Ali; Dağguli, Mansur; Utangaç, Mazhar; Baş, Okan; Penbegul, Necmettin

2015-10-01

The management of urolithiasis in children differs from adults because of anatomic and metabolic abnormalities. At present, various minimally invasive and invasive treatment strategies have been recommended to treat urinary tract Stones, including shock wave lithotripsy (SWL), standard percutaneous nephrolithotomy (PNL), mini-PNL, retrograde intrarenal surgery (RIRS), micro-PNL, and a new technique termed ultra-mini PNL (UMP). UMP is a new method for the treatment of kidney stones. The main difference between UMP and standard PNL or mini-PNL lies in the small access sheath and in its design. A 9.5F pediatric compact cystoscope was used (Figure). A major advantage of UMP is that it provides similar stone-free rates when compared with standard PNL, with lower intrarenal pressure than micro-PNL. The aim of the study was to determine the applicability and safety of UMP in the treatment of pediatric kidney stones. We retrospectively reviewed the files of 39 kidney stones in children who had undergone UMP between May 2011 and October 2014. The indications for UMP included stones resistant to SWL, stones requiring repeated sessions of SWL, and stones size larger than 20 mm. The study included 17 females and 22 males, with a mean age of 5.8 ± 4.6 years. The mean hemoglobin loss was 0.9 ± 0.6 mg/dL and none of the patients required a blood transfusion. The complication rate of the PNL procedure was 15.3% (n = 6). Complete clearance was achieved in 32 patients (82%) with UMP monotherapy, which increased to 34% (87.1%) 4 weeks after the operation. Management of urolithiasis necessitates a balance between stone clearance and morbidity related to the procedure. SWL often leads to persistent residual stones. The developing RIRS can minimize the risks associated with bleeding and visceral injury, but sometimes the abnormal pelvicaliceal anatomy and poor imaging of the flexible ureteroscopy may impact its success rate and applications. It has been reported that PNL can be performed safely and effectively to achieve a higher stone-free rate; however, it has serious complications such as bleeding that requires blood transfusion in 11-14% of the cases with increased risk of kidney loss. The recent development of smaller sheaths allows tract formation with minimal damage to the renal parenchyma, thereby reducing procedure-related morbidity without diminishing its therapeutic efficacy. The most important advantage of this surgical technique that has been developed is similar stone-free rates to standard PNL and lower intrarenal pressure than micro-PNL. Our experience supports that UMP is safe and effective for the management of renal stones in children. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

A multiregional Italian cohort of 24-hour urine metabolic evaluation in renal stone formers.

PubMed

Esperto, Francesco; Marangella, Martino; Trinchieri, Alberto; Petrarulo, Michele; Miano, Roberto

2018-02-01

Nephrolithiasis is a common condition with several studies documenting an increased prevalence over the past four decades. EAU and AUA guidelines recommend 24-hour urine metabolic evaluation in high-risk stone formers. Aim of this study is to retrospectively evaluate the first three years of experience with LithoTest® (Biohealth Italia Srl, Turin, Italy) through the analysis of demographic, clinical and biochemical data collected from a large cohort of patients with kidney stones. We retrospectively analyzed data from the LithoCenter database, including data from outpatient consultations, between January 2007 and December 2009 from all over Italy. LithoTest® was performed through a 24-hour urine collection and included measurements of urine volume and pH, 24-hour excretion of creatinine as well as main cations and anions, including calcium, magnesium sodium potassium, ammonium, uric acid, oxalate, citrate, phosphate, inorganic sulphate and chloride. Urine state of saturation for calcium oxalate (βCaOx), calcium hydrogen phosphate or brushite (βbsh) and uric acid (βUA) were also calculated by means of the computer program LithoRisk. Brand's test for cystinuria was also carried out. Statistical analysis was performed using the S-PSS software v. 22.0. The number of patients with data available for analysis was 435, of whom 236 were male (54%) and 199 female (46%). Complete 24-hour urine measurements were available for all 435 patients. Compared to men, women had significantly lower values for creatinine, urate, oxalate, phosphate, sodium, potassium, magnesium and chloride excretion, whereas 24-hour pH and citrate excretion were higher. No significant differences were found for the other examined variables. βCaOx and βUA were significantly higher in men than women, whereas no significant difference was found for βbsh. There was a direct relationship between calcium and sodium urine excretion. Excessive sodium excretion was recorded in 191 patients (44%) and low urine volumes in 201 (46.2%). Hyperoxaluria was observed in 118 patients (27.3%), hypercalciuria in 115 (26.6%), hyperuricosuria in 153 (35.4%), hypomagnesuria in 96 (22.2%), and hypocitraturia in 134 patients (31%). Hyperexcretion of sodium, hypocitraturia and hyperoxaluria were most frequent in males. βCaOx was significantly higher in the setting of hypercalciuria, hypocitraturia, hyperoxaluria and urine pH below 5.5. Our findings in a large cohort of high-risk stone-forming patients show significant differences in urinary metabolic profiles between men and women. Carrying on the collection and analysis of data by LithoTest® from 2009 to 2015 and matching urinary and dietary data could eventually improve our understanding on the metabolic profile of stone-formers in Italy.

Multiple sclerosis and nephrolithiasis: a matched-case comparative study.

PubMed

Ganesan, Vishnu; Chen, Wen Min; Jain, Rajat; De, Shubha; Monga, Manoj

2017-06-01

To compare stone composition and serum/urine biochemistries in stone formers with multiple sclerosis (MS) against stone formers without MS and to examine the association between mobility, methods of bladder emptying, and stone formation. In this retrospective case-control study, we identified patients diagnosed with MS and kidney stone disease who were seen at our institution between 2001 and 2016. For the first part of the study, up to two controls (stone formers without a history of MS) were identified for each case and matched on age, body mass index, and sex. For the second part of this study, matched controls (MS patients without a history of stones) were identified in a 1:1 ratio in a similar fashion. Results of 24-h urine biochemistry studies, stone compositions, serum laboratory measures, medications, history of stone surgeries, mobility, and method of bladder emptying were collected. In all, 587 patients were identified who had both MS and a history of stone disease. Of these, 118 patients had a stone composition available. When compared to matched controls, patients with MS were significantly more likely to have calcium phosphate stones (42% vs 15%, P < 0.001) and struvite stones (8% vs 3%, P = 0.03) and less likely to have calcium oxalate monohydrate stones (39% vs 64%, P < 0.001). Among those patients with a composition available, those with MS were more likely to have undergone a percutaneous nephrolithotomy (PCNL; 25% vs 12%, P = 0.005) or a cystolithopaxy (16% vs 3%, P < 0.001) compared to their matched controls. In all, 61 patients had a complete 24-h urinary stone panel. There were no significant differences in urinary pH, volume, creatinine, calcium, citrate, oxalate, sodium, and uric acid as well as rates of hypocitraturia, hyperoxaluria, hypercalciuria, and hyperuricosuria among patients with MS. Use of intermittent straight catheterisation [ISC; odds ratio (OR) 3.50, 95% confidence interval (CI) 1.89-6.47]; P < 0.001] or an indwelling catheter (OR 9.78, 95% CI 4.81-19.88; P < 0.001) for bladder emptying was significantly associated with stone disease. There was no association between level of mobility and stone disease (P = 0.10). Similar to findings seen in patients with spinal cord injuries, patients with MS have a high incidence of calcium phosphate stones and struvite stones when compared with matched controls. Additionally, they were more likely to undergo PCNL. The method of bladder management appears to be a risk factor in the development of stone disease. These findings suggest the importance of prompt treatment of urinary tract infections in this population and delay the use of ISC, suprapubic tube, or an indwelling Foley, when possible. © 2017 The Authors BJU International © 2017 BJU International Published by John Wiley & Sons Ltd.

Vitamin D supplementation for prevention of mortality in adults.

PubMed

Bjelakovic, Goran; Gluud, Lise Lotte; Nikolova, Dimitrinka; Whitfield, Kate; Wetterslev, Jørn; Simonetti, Rosa G; Bjelakovic, Marija; Gluud, Christian

2014-01-10

Available evidence on the effects of vitamin D on mortality has been inconclusive. In a recent systematic review, we found evidence that vitamin D3 may decrease mortality in mostly elderly women. The present systematic review updates and reassesses the benefits and harms of vitamin D supplementation used in primary and secondary prophylaxis of mortality. To assess the beneficial and harmful effects of vitamin D supplementation for prevention of mortality in healthy adults and adults in a stable phase of disease. We searched The Cochrane Library, MEDLINE, EMBASE, LILACS, the Science Citation Index-Expanded and Conference Proceedings Citation Index-Science (all up to February 2012). We checked references of included trials and pharmaceutical companies for unidentified relevant trials. Randomised trials that compared any type of vitamin D in any dose with any duration and route of administration versus placebo or no intervention in adult participants. Participants could have been recruited from the general population or from patients diagnosed with a disease in a stable phase. Vitamin D could have been administered as supplemental vitamin D (vitamin D3 (cholecalciferol) or vitamin D2 (ergocalciferol)) or as an active form of vitamin D (1α-hydroxyvitamin D (alfacalcidol) or 1,25-dihydroxyvitamin D (calcitriol)). Six review authors extracted data independently. Random-effects and fixed-effect meta-analyses were conducted. For dichotomous outcomes, we calculated the risk ratios (RRs). To account for trials with zero events, we performed meta-analyses of dichotomous data using risk differences (RDs) and empirical continuity corrections. We used published data and data obtained by contacting trial authors.To minimise the risk of systematic error, we assessed the risk of bias of the included trials. Trial sequential analyses controlled the risk of random errors possibly caused by cumulative meta-analyses. We identified 159 randomised clinical trials. Ninety-four trials reported no mortality, and nine trials reported mortality but did not report in which intervention group the mortality occurred. Accordingly, 56 randomised trials with 95,286 participants provided usable data on mortality. The age of participants ranged from 18 to 107 years. Most trials included women older than 70 years. The mean proportion of women was 77%. Forty-eight of the trials randomly assigned 94,491 healthy participants. Of these, four trials included healthy volunteers, nine trials included postmenopausal women and 35 trials included older people living on their own or in institutional care. The remaining eight trials randomly assigned 795 participants with neurological, cardiovascular, respiratory or rheumatoid diseases. Vitamin D was administered for a weighted mean of 4.4 years. More than half of the trials had a low risk of bias. All trials were conducted in high-income countries. Forty-five trials (80%) reported the baseline vitamin D status of participants based on serum 25-hydroxyvitamin D levels. Participants in 19 trials had vitamin D adequacy (at or above 20 ng/mL). Participants in the remaining 26 trials had vitamin D insufficiency (less than 20 ng/mL).Vitamin D decreased mortality in all 56 trials analysed together (5,920/47,472 (12.5%) vs 6,077/47,814 (12.7%); RR 0.97 (95% confidence interval (CI) 0.94 to 0.99); P = 0.02; I(2) = 0%). More than 8% of participants dropped out. 'Worst-best case' and 'best-worst case' scenario analyses demonstrated that vitamin D could be associated with a dramatic increase or decrease in mortality. When different forms of vitamin D were assessed in separate analyses, only vitamin D3 decreased mortality (4,153/37,817 (11.0%) vs 4,340/38,110 (11.4%); RR 0.94 (95% CI 0.91 to 0.98); P = 0.002; I(2) = 0%; 75,927 participants; 38 trials). Vitamin D2, alfacalcidol and calcitriol did not significantly affect mortality. A subgroup analysis of trials at high risk of bias suggested that vitamin D2 may even increase mortality, but this finding could be due to random errors. Trial sequential analysis supported our finding regarding vitamin D3, with the cumulative Z-score breaking the trial sequential monitoring boundary for benefit, corresponding to 150 people treated over five years to prevent one additional death. We did not observe any statistically significant differences in the effect of vitamin D on mortality in subgroup analyses of trials at low risk of bias compared with trials at high risk of bias; of trials using placebo compared with trials using no intervention in the control group; of trials with no risk of industry bias compared with trials with risk of industry bias; of trials assessing primary prevention compared with trials assessing secondary prevention; of trials including participants with vitamin D level below 20 ng/mL at entry compared with trials including participants with vitamin D levels equal to or greater than 20 ng/mL at entry; of trials including ambulatory participants compared with trials including institutionalised participants; of trials using concomitant calcium supplementation compared with trials without calcium; of trials using a dose below 800 IU per day compared with trials using doses above 800 IU per day; and of trials including only women compared with trials including both sexes or only men. Vitamin D3 statistically significantly decreased cancer mortality (RR 0.88 (95% CI 0.78 to 0.98); P = 0.02; I(2) = 0%; 44,492 participants; 4 trials). Vitamin D3 combined with calcium increased the risk of nephrolithiasis (RR 1.17 (95% CI 1.02 to 1.34); P = 0.02; I(2) = 0%; 42,876 participants; 4 trials). Alfacalcidol and calcitriol increased the risk of hypercalcaemia (RR 3.18 (95% CI 1.17 to 8.68); P = 0.02; I(2) = 17%; 710 participants; 3 trials). Vitamin D3 seemed to decrease mortality in elderly people living independently or in institutional care. Vitamin D2, alfacalcidol and calcitriol had no statistically significant beneficial effects on mortality. Vitamin D3 combined with calcium increased nephrolithiasis. Both alfacalcidol and calcitriol increased hypercalcaemia. Because of risks of attrition bias originating from substantial dropout of participants and of outcome reporting bias due to a number of trials not reporting on mortality, as well as a number of other weaknesses in our evidence, further placebo-controlled randomised trials seem warranted.

Biomimetic Randall's plaque as an in vitro model system for studying the role of acidic biopolymers in idiopathic stone formation.

PubMed

Chidambaram, Archana; Rodriguez, Douglas; Khan, Saeed; Gower, Laurie

2015-01-01

Randall's plaque (RP) deposits seem to be consistent among the most common type of kidney stone formers, idiopathic calcium oxalate stone formers. This group forms calcium oxalate renal stones without any systemic symptoms, which contributes to the difficulty of understanding and treating this painful and recurring disease. Thus, the development of an in vitro model system to study idiopathic nephrolithiasis, beginning with RP pathogenesis, can help in identifying how plaques and subsequently stones form. One main theory of RP formation is that calcium phosphate deposits initially form in the basement membrane of the thin loops of Henle, which then fuse and spread into the interstitial tissue, and ultimately make their way across the urothelium, where upon exposure to the urine, the mineralized tissue serves as a nidus for overgrowth with calcium oxalate into a stone. Our group has found that many of the unusual morphologies found in RP and stones, such as concentrically laminated spherulites and mineralized collagenous tissue, can be reproduced in vitro using a polymer-induced liquid precursor (PILP) process, in which acidic polypeptides induce a liquid phase amorphous precursor to the mineral, yielding non-equilibrium crystal morphologies. Given that there are many acidic proteins and polysaccharides present in the renal tissue and urine, we have put forth the hypothesis that the PILP system may be involved in urolithiasis. Therefore, our goal is to develop an in vitro model system of these two stages of composite stone formation to study the role that various acidic macromolecules may play. In our initial experiments presented here, the development of "biomimetic" RP was investigated, which will then serve as a nidus for calcium oxalate overgrowth studies. To mimic the tissue environment, MatriStem(®) (ACell, Inc.), a decellularized porcine urinary bladder matrix was used, because it has both an intact epithelial basement membrane surface and a tunica propria layer, thus providing the two types of matrix constituents found associated with mineral in the early stages of RP formation. We found that when using the PILP process to mineralize this tissue matrix, the two sides led to dramatically different mineral textures, and they bore a striking resemblance to native RP, which was not seen in the tissue mineralized via the classical crystal nucleation and growth process. The interstitium side predominantly consisted of collagen-associated mineral, while the luminal side had much less mineral, which appeared to be tiny spherules embedded within the basement membrane. Although these studies are only preliminary, they support our hypothesis that kidney stones may involve non-classical crystallization pathways induced by the large variety of macromolecular species in the urinary environment. We believe that mineralization of native tissue scaffolds is useful for developing a model system of stone formation, with the ultimate goal of developing strategies to avoid RP and its detrimental consequences in stone formation, or developing therapeutic treatments to prevent or cure the disease. Supported by NIDDK grant RO1DK092311.

Gastrinomas associated with MEN-1 syndrome: new insights for the diagnosis and management in a series of 11 patients.

PubMed

Nikou, George C; Toubanakis, Christos; Nikolaou, Panagiota; Giannatou, Eleanna; Marinou, Kiriakoula; Safioleas, Michael; Karamanolis, Dimitrios

2005-01-01

Approximately, 25-30% of patients (pts) have gastrinomas, (Zollinger-Ellison syndrome, ZES), as part of the inherited syndrome, multiple endocrine neoplasia 1 (MEN-1). The identification of MEN-1 syndrome in these pts is always important, as there are some differences in their management and prognosis. Among 33 pts with ZES, we present in this study 11 pts with ZES and MEN-1 syndrome, describing our diagnostic and therapeutic approach. Eleven pts with ZES and MEN-1 syndrome (6 females and 5 males) were included (mean age 51.8 years). The diagnosis of ZES was based upon: a) clinical features and b) high serum gastrin levels, while in 7/11 pts diagnosis was confirmed histopathologically. A variety of other gastrointestinal peptides, as well as the general neuroendocrine tumor marker, Chromogranin-A (CgA) were also estimated. All pts underwent conventional imaging methods (CT, MRI) and OCTREOSCAN or EUS when necessary, in order to localize the primary lesion or the metastases. The diagnosis of MEN-1 was based upon the presence of the other two MEN-1 related endocrinopathies (hyperparathyroidism, pituitary adenomas), revealed by estimation of several hormones (PTH, Prolactin, ACTH etc.) and performance of imaging studies of the pituitary and parathyroid glands. When MEN-1 syndrome was established, a familiar screening of pts was also performed, when possible. The mean duration of pts' follow-up was 6.1 years (range: 2.1-8.5 years). At the time of presentation, 91% pts, had symptoms of peptic ulcer disease, refractory to treatment, while a history of colicky abdominal pain due to nephrolithiasis was also reported by 45% pts. Four of our pts had a blood relation. Serum gastrin levels at the time of diagnosis were greater than 1000pg/mL in 63.5% pts, while at the same time serum CgA levels were greater than 10 times the upper normal limit (<98ng/mL) in all pts. OCTREOSCAN and EUS revealed the primary tumor (in duodenum or pancreas) in 64% pts, in whom conventional methods showed no abnormalities at the same time. Parathyroid adenomas, pituitary adenomas and bronchial carcinoids were revealed in 11, 3 and 1 pts respectively, which were treated surgically. Also, surgical treatment of pancreatic or duodenal gastrinomas was performed in 54.5% pts, while pts who already had metastases (45%), or developed them during the follow-up period (18%), were treated by somatostatin analogues (63.6%) and chemotherapy (27.3%). Ten out of 11 pts are alive and in a good condition, whereas 1 patient died 2.8 years after diagnosis. Familiar screening revealed parathyroid adenomas in 4 children of our pts, which were treated surgically. MEN-1 syndrome should always be considered in pts with ZES. A precise preoperative localization of all pancreaticoduodenal lesions, in combination with a surgical exploration and management by experienced surgeons, seems to be curative in pts without distal metastases. Non-surgical treatment with somatostatin analogues and chemotherapy in pts with progressive disease seem to stabilize the disease, although further studies are needed. A close clinical and biochemical follow-up of all pts, as well as their family members, is necessary in order to reveal and treat all MEN-1 related endocrinopathies and especially PETs, in an early stage.

Acquired hemophilia in the patient suffering from rheumatoid arthritis: case report.

PubMed

Drobiecki, Arkadiusz; Pasiarski, Marcin; Hus, Iwona; Sokołowska, Bożena; Wątek, Marzena

2013-12-01

Acquired hemophilia is a severe bleeding diathesis caused by autoantibodies against a coagulation factor VIII (FVIII inhibitor). Massive bleeding diathesis, often life threatening are observed in almost 90% of patients. In 50-60% of cases, inhibitor emerges spontaneously. However, there are some conditions like pregnancy, puerperium, autoimmune disorders or cancers that seem to induce acquired hemophilia. We report a case of a 49-year-old woman suffering from rheumatoid arthritis (RA) for several years, who was diagnosed with acquired hemophilia in September 2011. The patient had been treated by steroids and leflunomide during the last few months. At the time of diagnosis, diffuse bruising of the forearms and the trunk was observed. The patient was treated with recombinant activated factor VII, and the first-line immunosuppressive therapy was introduced (cyclophosphamide and prednisone). We observed the elimination of symptoms and the disappearance of diathesis. Significant reduction of the titer of inhibitor was achieved, but only partial remission was obtained. It lasted until the beginning of December 2011, when the titer of the inhibitor increased again and massive bleeding to the left lower limb occurred. It was necessary to administer recombinant factor VIIa together with the second-line immunosuppressive therapy based on the Budapest protocol. The rapid reduction of the diathesis and improvement of the patient's general condition was achieved as previously. However, still there was no complete remission. After 2 weeks of treatment, the titer of inhibitor diminished, and factor VIII activity increased slightly. Because of RA, the patient was treated with methylprednisolone in maintenance doses during the next few weeks. Unfortunately, after over a month, the increase of inhibitor titer and the decrease of FVIII level were observed again. Some bruises appeared. It was necessary to increase doses of corticosteroids to therapeutic levels and add cyclophosphamide in low doses to prevent the appearance of more hemorrhagic diathesis. Partial remission was achieved a second time at the end of April 2012. The patient was given methylprednisolone with chloroquine as a maintenance treatment and the control of RA. The titer of the inhibitor increased again in June 2012, but there were no signs of diathesis. In August 2012, some bruises were detected, and we decided to add cyclophosphamide again instead of escalating the doses of methylprednisolone to prevent the occurrence of side-effects of corticosteroids. Cyclophosphamide was given with intervals only depending on activated partial thromboplastin time. No further diathesis was observed in spite of the lack of remission. We were forced to withdrawn cyclophosphamide completely in October 2012 because of signs of hematuria. Fortunately, right nephrolithiasis and urinary tract infection were the cause of that condition. These symptoms vanished after standard supportive treatment. Maintenance doses of corticosteroids and chloroquine were continued as the main treatment. The patient's condition was good, but the titer of inhibitor increased over the value that had been detected at the time of diagnosis, and some bruises appeared again at the end of January 2013. The decision to use rituximab as the next-line therapy was made. This anti-CD20 monoclonal antibody is primarily used in the management of lymphomas. However, it has been successfully applied in the management of various autoimmune conditions. The usual treatment regime involves four separate intravenous infusions of 375 mg/m each, administered at weekly intervals. At the time of admission to the hospital in the second half of February 2013, the titer of inhibitor was dangerously high, almost three times more than the initial level. Fortunately, only a few bruises were observed, and no bypassing agents were needed. The patient was given the whole-planned therapy. Concomitant continuation of maintenance doses of corticosteroids was necessary to enforce the effect of eradication of inhibitor because of high levels of its titer during rituximab administration. It prevented the patient from massive diathesis that might occur. The laboratory tests were improving during the next subsequent weeks after the last dose of rituximab. Over a month later, a significant decrease of the titer of inhibitor and an increase of factor VIII activity was observed. Probably, the laboratory tests will be improving during the next few weeks. The patient is in outpatient care now. She is treated with maintenance doses of corticosteroids and chloroquine as the main treatment of RA. We will try to withdraw corticosteroids unless it is not feasible to achieve complete remission. We will have to introduce another kind of immunosuppressive agent in case of recurrence.