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)

Renal hypouricemia is an inherited and heterogeneous disorder characterized by increased urate clearance (CUA). The authors recently established that urate was reabsorbed via URAT1 on the tubular apical membrane and that mutations in SLC22A12 encoding URAT1 cause renal hypouricemia. This study was undertaken to elucidate and correlate clinical and genetic features of renal hypouricemia. The SLC22A12 gene was sequenced in 32 unrelated idiopathic renal hypouricemia patients, and the relationships of serum urate levels, and CUA/creatinine clearance (Ccr) to SLC22A12 genotype were examined. Uricosuric (probenecid and benzbromarone) and anti-uricosuric drug (pyrazinamide) loading tests were also performed in some patients. Three patients had exercise-induced acute renal failure (9.4%), and four patients had urolithiasis (12.5%). The authors identified eight new mutations and two previously reported mutations that result in loss of function. Thirty patients had SLC22A12 mutations; 24 homozygotes and compound heterozygotes, and 6 heterozygotes. Mutation G774A dominated SLC22A12 mutations (74.1% in 54 alleles). Serum urate levels were significantly lower and CUA/Ccr was significantly higher in heterozygotes compared with healthy subjects; these changes were even more significant in homozygotes and compound heterozygotes. These CUA/Ccr relations demonstrated a gene dosage effect that corresponds with the difference in serum urate levels. In contrast to healthy subjects, the CUA/Ccr of patients with homozygous and compound heterozygous SLC22A12 mutations was unaffected by pyrazinamide, benzbromarone, and probenecid. The findings indicate that SLC22A12 was responsible for most renal hypouricemia and that URAT1 is the primary reabsorptive urate transporter, targeted by pyrazinamide, benzbromarone, and probenecid in vivo.
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PMID:Clinical and molecular analysis of patients with renal hypouricemia in Japan-influence of URAT1 gene on urinary urate excretion. 1469 69

Renal failure remains a serious cause of mortality in Yemen. Our region has 1.25 million population and our hospital is the central hospital, which has a nephrology department and performs dialysis for the region. Between January 1998 and December 2002, we admitted 547 patients; including children, with acute renal failure (ARF) and chronic renal failure (CRF). CRF was observed in 400 patients, an incidence of 64 per million per year and a prevalence of 320 per million. ARF occurred in 147 persons with an incidence of 23.5 per million per year and a prevalence of 117.5 patients per million. Of all patients, 72% were adults (age range, 20-60 years) with a male preponderance. As a tropical country, malaria (27.9%), diarrhea (13.6%), and other infectious diseases were the main causes. Next most common were obstructive diseases causing CRF and ARF (26.8% and 12.9%, respectively), mainly urolithiasis, Schistosomiasis, and prostatic enlargement. However the cause of CRF in 57.5% of patients was unknown as most persons presented late with end-stage disease (64.7%), requiring immediate intervention. Other causes, such as hepatorenal syndrome, snake bite, diabetes mellitus, and hypertension, showed low occurrence rates. Patients presented to the hospital mostly in severe uremia and without a clear history of prior medications. The major findings were vomiting, acidosis, and hypertension with serum creatinine values ranging between 2.8-45 mg/dL (mean value, 13.4 mg/dL). Anemia was observed in 80.4% of CRF versus 62.6% of ARF patients. Hypertension prevalence was 65.5% among CRF patients, of whom 25% were in hypertensive crisis, whereas among ARF the prevalence was only 26.5%.
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PMID:Renal failure in Yemen. 1535 Apr 75

We report the case of a 65 year old man, with a history of recurrent urolithiasis, who was referred for an acute renal failure. Investigations deny obstructive or glomerular involvement. 2,8-Dihydroxyadeninuria was diagnosed with the help of crystalluria. This rare metabolic disease is due to a deficiency of adenine phosphoribosyltransferase, a purine salvage enzyme. Allopurinol, a low purine diet and high fluid intake made possible the nearly entire regression of renal failure.
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PMID:[Acute renal failure and 2,8-dihydroxyadeninuria]. 1558 40

Idiopathic myelofibrosis is characterized by bone marrow fibrosis, anemia, leukoerythroblastosis, and extramedullary hematopoiesis in many organs. Renal abnormalities in idiopathic myelofibrosis have been rarely described in the literature and include extramedullary hematopoiesis in the pararenal or retroperitoneal areas resulting in obstructive uropathy and hemtopoietic cell infiltration in tubulointerstitial area and urolithiasis. These lead to azotemia or acute renal failure, which may respond well to radiotherapy and adjuvant chemotherapy. To our knowledge, there has been only one case report of nephrotic syndrome associated with glomerulonephritis in a myelofibrosis patient; however, no effective treatment was described. Herein, we report the case of a patient with idiopathic myelofibrosis who initially presented with hepatomegaly, anemia, and leukoerythroblastosis. A nephrotic syndrome developed 7 years after initial diagnosis. Renal biopsy disclosed the unique pathological finding of simultaneous mesangial proliferative glomerulonephritis, renal extramedullary hematopoiesis, and gouty nephropathy. Despite treatment with busulfan, proteinuria persisted that implied irreversible glomerular injury and a terminal prognosis. We focus on the unusual pathological finding and the association between nephrotic syndrome and idiopathic myelofibrosis.
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PMID:Idiopathic myelofibrosis associated with renal extramedullary hematopoiesis and nephrotic syndrome: case report. 1564 Dec 21

Idiopathic renal hypouricemia is a hereditary disease characterized by abnormally high renal uric acid clearance. Most patients are clinically silent, but acute renal failure (ARF), urolithiasis, or hematuria may develop. A defect in the SLC22A12 gene, which encodes the renal uric acid transporter, URAT1, is the known major cause of this disorder. We performed a mutational analysis of the SLC22A12 gene in five Korean patients with idiopathic renal hypouricemia in this study. Two patients presented with microscopic hematuria, one with uric acid urolithiasis, and one with exercise-induced ARF. One patient was asymptomatic. Three different mutations, W258X, R90H and R477H, were detected in four of the patients. However, no mutation was found in the fifth ARF patient. This is the first study of SLC22A12 mutations in a country other than Japan. W258X was found to be the predominant SLC22A12 mutation in Korean renal hypouricemia patients, as has been reported in Japan.
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PMID:Mutational analysis of idiopathic renal hypouricemia in Korea. 1591 81

Hypouricemia is a common disorder in the general population. Herein, renal hypouricemia caused by human urate transporter 1 (hURAT1) gene mutations in a Japanese patient with intellectual disability is reported. She had compound heterozygous mutations in this gene (W258X and IVS2+1G>A), nevertheless, she showed no clinical manifestations such as urolithiasis and exercise-induced acute renal failure. Restriction enzyme analysis with HphI was useful to screen the IVS2+1G>A mutation in hURAT1 gene.
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PMID:A case of renal hypouricemia caused by urate transporter 1 gene mutations. 1672 60

Lesch-Nyhan syndrome is a very rare X-linked recessive disorder caused by mutation in the gene encoding enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). A complete deficiency of HPRT leads to severe purine overproduction and to uric acid renal lithiasis as a consequence. This may be effectively prevented by administration of allopurinol; however, its overdosage may result in xanthinuria and xanthine urolithiasis. We report on a 9-year-old boy with Lesch-Nyhan syndrome who developed acute renal failure due to bilateral staghorn xanthine urolithiasis resulting from long-term treatment with excessive doses of allopurinol. To the best of our knowledge, the presented case is the first one in the literature.
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PMID:Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. 1677 22

Drugs can cause renal stone formation either by raising excretion rates of naturally occurring stone components or by directly precipitating within the urinary tract. In large series of analysed renal stones, the overall frequency of drug-induced urolithiasis is less than 0.5%. Five clinical presentations of drug-induced crystallization in the kidneys can be recognized: asymptomatic crystalluria, symptomatic crystalluria; stone passage; obstructive uropathy and tubulointerstitial nephritis. In the current literature review, the protease inhibitors used for treatment of patients infected with the human immunodeficiency virus stand out as a new class of drugs that frequently causes crystallization within the urinary tract. The most widely used compound, indinavir, may lead to crystalluria and renal stone formation in up to 50% of patients, and occasionally also causes acute renal failure caused by obstructive uropathy or tubulointerstitial nephritis. On the other hand, ritonavir appears more often to induce (reversible) acute renal failure than stone formation.
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PMID:Drug-induced urolithiasis. 1703 78

Acute renal failure (ARF) is one of the complications of urolithiasis, but the role of medical treatment to relieve urinary obstruction in children with ARF is uncertain. We report on infants with acute obstructive uric acid lithiasis. We describe presentation features as well as diagnosis methods and medical treatment in five infants who were admitted to our institution with ARF due to uric acid lithiasis. The medical treatments for all patients were fluid liberalization, urine alkalinization, and oral allopurinol. Two children underwent urinary diversion. Within 8 h, urine output improved in all patients, and the stones passed spontaneously. All obstructed kidneys were relieved with medical treatment, and no renal sequel remained. So this series has showed a role of medical therapy in acute obstructive uric acid lithiasis.
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PMID:Acute renal failure due to bilateral uric acid lithiasis in infants. 1739 50

To document the pattern of childhood renal diseases in the mid-western zone of Nigeria, we evaluated 195 children in the pediatric in-patient service at the University of Benin Teaching Hospital (UBTH) from 1997-2002. There were 250 renal disease episodes that occurred in 195 children. Renal disease accounted for 4.5% of total pediatric admissions. Urinary tract infection (UTI) was found in 82 (32.8%) cases caused largely by Escherichia coli in 39 (47.6%) followed by Staphylococcus aureus in 21 (25.6%). Other morbidities were nephrotic syndrome 61(24.4%), characterized by high incidences of associated UTI and steroid resistance; acute glomerulonephritis (AGN) in 50 (20.0%), complicated commonly by UTI and congestive cardiac failure; chronic renal failure in 24 (9.6%), resulting mainly from obstructive uropathy and glomerulonephritidis and nephro-blastoma in 17 (6.8%). Rare conditions included acute renal failure, urethral prolapse, vesico-ureteric reflux, polycystic kidney disease, urolithiasis and meatal stenosis among others. We conclude that potentially preventable renal diseases are still highly prevalent in our society to warrant community-based interventions. Preventive measures are advocated.
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PMID:Pattern of renal diseases in children in midwestern zone of Nigeria. 1765 32


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