S-Space College of Medicine/School of Medicine (의과대학/대학원) Pediatrics (소아과학전공) Journal Papers (저널논문_소아과학전공)
Mutational analysis of idiopathic renal hypouricemia in Korea
- Cheong, Hae Il; Kang, Ju Hyung; Lee, Joo Hoon; Ha, Il Soo; Kim, Suhnggwon; Komoda, Fusako; Sekine, Takashi; Igarashi, Takashi; Choi, Yong
- Issue Date
- Springer Verlag
- Pediatr Nephrol. 2005 Jul;20(7):886-90. Epub 2005 May 24.
- Adolescent; Adult; Arginine; Asian Continental Ancestry Group/*genetics; Base Sequence; Carrier Proteins/*genetics; Child; DNA Mutational Analysis; Exercise; Female; Hematuria/etiology; Histidine; Humans; Kidney Diseases/*blood/complications/*genetics/radiography; Kidney Failure, Acute/complications/etiology; Male; Molecular Sequence Data; *Mutation; Organic Anion Transporters/*genetics; Organic Cation Transport Proteins; Tomography, X-Ray Computed; Tryptophan; Uric Acid/*blood; Urinary Calculi/etiology
- 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.
- 0931-041X (Print)
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