Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0451641 (urolithiasis)
 3,973 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The spectrum of kidney and urinary tract disorders related to purines comprises acute hyperuricosuric nephropathy, chronic urate nephropathy and urolithiasis. Two factors in the development of acute hyperuricosuric nephropathy are increased uric acid concentration and low pH in the tubular fluid. Chronic urate nephropathy still possess several problems: incidence (although this seems to be decreasing, presumably owing to effective prevention), the source of interstitial urate, the cause of the interstitial deposition of urate, and the role of urate deposits in the pathogenesis of the interstitial nephropathy. The relation of the experimental nephropathy to the pathogenesis of chronic urate nephropathy in the human is not yet clear but a model is proposed according to which interstitial urate derives from two sources: hyperuricaemic plasma and hyperuricosuric tubular fluid. Urolithiasis related to purines leads to uric acid-urate stones, xanthine stones, 2,8-dihydroxyadenine stones, iatrogenic xanthine and oxipurinol stones, and possibly calcium stones. Pathogenetic factors in uric acid lithiasis are hyperuricosuria (whether due to an inborn enzyme abnormality or of unknown aetiology) and low urinary pH; oliguria is a contributory factor. There remain several open questions about uric acid lithiasis: incidence, the shift of its location from lower to upper urinary tract, the interplay of pathogenetic factors, and the role of compounds which inhibit crystallization.
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PMID:Implications of disorders of purine metabolism for the kidney and the urinary tract. 2 29

Familial renal hypouricemia with exercise-induced acute renal failure (ARF) is rare. A 45-year-old man presented with abdominal pain, vomiting, and oliguria after severe exercise. The diagnosis was ARF based on high serum creatinine (SCr) level (5.1 mg/dL [451 micromol/L]). Renal function recovered completely within 2 weeks of conservative treatment (creatinine clearance [Ccr], 100.4 mL/min [1.67 mL/s]). After remission, laboratory results showed serum urate (SUA) of 0.8 mg/dL (48 micromol/L), and fractional excretion of uric acid (FE(UA)) of 46%. The final diagnosis was ARF associated with idiopathic renal hypouricemia. Other diseases that could increase the excretion of urate were excluded. Because only mild responses were observed both in pyradinamide and benzbromarone loading tests, he was considered to be a presecretory reabsorption disorder type. The younger brother (42 years old) also had episodes of low and middle back pain after severe exercise and experienced similar attacks at least 5 times since the age of 29. SCr level was elevated in every attack. Hypouricemia (SUA, 1.0 mg/dL [59 micromol/L]) and high urinary urate excretion (FE(UA), 65.7%) also were detected. Renal function recovered almost completely without any specific treatment. Radiologic examination of the 2 cases showed bilateral urolithiasis probably caused by the high urinary urate excretion. Sequence analysis of a urate anion exchanger known to regulate blood urate level (URAT1 gene) in both brothers showed homozygous mutation in exon 4 (W258Stop), resulting in a premature truncated URAT1 protein. Both their parents and their children showed heterozygous mutation of the URAT1 gene. This is the first report of the 2 male siblings of familial renal hypouricemia complicated with exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene (URAT1).
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PMID:Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. 1465 3

Familial renal hypouricemia is a hereditary disease characterized by extraordinary high renal uric acid clearance and is associated with acute renal failure (ARF). An 18-year-old sumo wrestler developed ARF after anaerobic exercise. Several hours after the exercise, he had a pain in the loins with oliguria, headache, and nausea. On admission, his serum uric acid was decreased despite the elevation of serum creatinine (9.5 mg/dL). The level of creatine kinase was normal and there was no myoglobinuria or urolithiasis. Magnetic resonance imaging showed no significant abnormality. Renal function improved completely within 2 weeks of hydration treatment. After remission, hypouricemia became obvious (1.0 mg/dL) from the initial level of uric acid (6.1 mg/dL) and fractional excretion of uric acid was 49%. Polymerase chain reaction of a urate anion exchanger known to regulate blood urate level (SLC22A12 gene: URAT1) demonstrated that homozygous mutations in exon 4 (W258X). Both parents showed heterozygous mutation of the URAT1 gene, but both siblings showed no mutation. Thus, we describe a Japanese sumo wrestler of familial renal hypouricemia complicated with anaerobic exercise-induced ARF, with definite demonstration of genetic abnormality in the responsible gene, URAT1.
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PMID:Acute renal failure after exercise in a Japanese sumo wrestler with renal hypouricemia. 1909 27

Cystinuria is an autosomal recessive disorder characterized with abnormal tubular reabsorption of cystine and dibasic amino acids leading to cystine urolithiasis. The classical form is caused by mutations in the SLC3A1 gene (OMIM 220100). The cornerstone of the treatment is high hydration and alkalization of the urine to achieve urine pH between 7.0 and 7.5, at which point, cystine solubility in the urine is optimal. These measures very often fail, and thus addition of sulfhydryl agents like penicillamine and tiopronin (mercaptopropionyl glycine) is recommended. Herein, we report a 3-year-old boy with cystinuria resulting in recurrent nephrolithiasis requiring surgery and extracorporeal shock wave lithotripsy. Nine months after introduction of tiopronin, the boy manifested generalized edema, oliguria, and biochemical indices of nephrotic syndrome. Tiopronin was withdrawn, and the boy was given only supportive treatment. Within 10 days, he entered into clinical and biochemical remission. Pediatricians should be aware of this adverse effect of tiopronin, and therefore, testing of the urine with strips or sulfosalicylic acid at least once weekly at home may be very helpful for early detection of proteinuria.
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PMID:Nephrotic syndrome occurring during tiopronin treatment for cystinuria. 2092 4

Renal hypouricemia is a clinical disorder attributed to an increased renal urate excretion rate and is well known to involve a high risk of urolithiasis and exercise-induced acute kidney injury (AKI). This report concerns two interesting cases of nephrotic syndrome (NS)-induced AKI associated with renal hypouricemia. A 64-year-old female (Case 1) and a 37-year-old male (Case 2) were hospitalized because of AKI (serum creatinine: 2.07 mg/dl and 3.3 mg/dl, respectively), oliguria and NS. They were treated with prednisolone and temporary hemodialysis. Renal function improved, but hypouricemia persisted during hospitalization. Histological findings in both cases led to a diagnosis of minimal change nephrotic syndrome and identification of the diuretic phase of tubulointerstitial damage because of findings such as acute tubular necrosis. Furthermore, distal tubules of Case 2 showed an amorphous mass, possibly a uric acid crystal. Analysis of the two cases with the URAT1 gene, encoded by SLC22A12, found a homozygous mutation in exon 4 (W258stop) of each one. Our cases show that patients with renal hypouricemia may be susceptible to AKI without involvement of exercise if they possess some facilitators. Renal hypouricemic patients should therefore be carefully examined for all complications from renal hypouricemia because of high risk of AKI.
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PMID:Two cases of nephrotic syndrome (NS)-induced acute kidney injury (AKI) associated with renal hypouricemia. 2172 10

In 2008, more than 290,000 children suffered from urinary tract stones with a history of consuming melamine-contaminated powdered formula in China. Little was known about the long-term follow-up of outcomes of these patients in southwest China, so we conducted one-year follow-up investigation for further study. Thirty-six of 51 inpatients with melamine-induced urolithiasis were enrolled in this study. After 12 months follow-up, none of the children had vomiting, oliguria, gross hematuria, or fever. Twenty-seven patients were stone free, stones decreased in size in six patients and increased in three. Serum total protein, albumin, and pre-albumin increased significantly from baseline to 12 months, and renal function remained normal. Melamine-induced urolithiasis could not lead renal dysfunction at 12 months follow-up. The results of our study indicated that more attention should be paid to the prevention of protein malnutrition in children with a history of consuming melamine-contaminated food products.
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PMID:One-year follow-up of patients with melamine-induced urolithiasis in Southwest China. 2223 77

The aim of this study was to determine the clinical characteristics and diagnosis of severe, acute urolithiasis in infants and toddlers, caused by melamine contamination in infant formula milk. The clinical data of 28 patients were collected and analyzed. Among the 28 patients, 17 patients received indwelling ureteral stents by cystoscopy (60.71%) and 5 patients received open surgery to extract calculi (17.86%). Four patients received catheterization or diuretic, anti-inflammatory or antispasmodic treatment (14.28%). Two patients underwent a second open surgery to extract calculi (7.14%). Eventually, the stones were eliminated from 23 patients and 5 patients had residual stones. In the 5 patients with residual stones, 3 patients had kidney stones, hydronephrosis or unilateral ureteral stones, resulting in urinary obstruction following surgery. Urolithiasis in infants and toddlers caused by melamine contamination was diagnosed, with common symptoms, including acute anuria, oliguria and dysurias. Ultrasonic inspection may be used to successfully examine urinary stones. Computed tomography (CT) scanning further detects the position of the stones and the degree of edema. Ureteral stenting via cystoscopy is a useful method, resulting in minimal trauma and a positive prognosis.
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PMID:Diagnosis and therapy of acute urolithiasis caused by melamine contamination in infant formula milk. 2373 68

Mortality among patients with emphysematous pyelonephritis (EPN) has reduced from 78% to 21%, yet it is one of the most serious urologic emergencies. This prospective observational study aims to study and compare clinical profile, management, and outcomes in diabetic and nondiabetic patients with EPN. All patients of EPN admitted to emergency medical services were included in the study. Patients were grouped into diabetic and nondiabetic EPN, and the eventual predictors of mortality were assessed. The mean age of patients was 55.43 years, with 36 (65.7%) female patients. Mortality was found to be 18.86%. On univariate analysis, the factors significantly associated with mortality include dyspnea at presentation, altered consciousness, blood pressure <90 systolic, oliguria, decreased platelet count (<100,000/mm[3]), urine culture positive for Escherichia coli, hyponatremia (Na <132), hyperkalemia (K >5.0), higher computerized tomography (CT) grade, and emergency nephrectomy as an intervention modality (P <0.05). Mortality was comparable among diabetics and nondiabetics. Diabetics had a lower CT score and higher creatinine (>2 mg/dL) as compared to nondiabetics. Most patients having urolithiasis were nondiabetic. Although nondiabetics had a higher CT score as compared to diabetics, the mortality in nondiabetics and diabetics was equivalent. This may suggest that either diabetics have a rapid deterioration of EPN status or intercurrent metabolic factors in diabetics may contribute to mortality among diabetics. Raised serum creatinine and immunocompromised status owing to diabetes may also play a role.
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PMID:Comparing diabetic and nondiabetic emphysematous pyelonephritis and evaluating predictors of mortality. 3192 73