title: Mutational analysis of idiopathic renal hypouricemia in Korea.
abstract: 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.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea. cheonghi@plaza.snu.ac.kr
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
authors.forename: Ju Hyung
authors.initials: JH
authors.lastname: Kang
authors.forename: Joo Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Suhnggwon
authors.initials: S
authors.lastname: Kim
authors.forename: Fusako
authors.initials: F
authors.lastname: Komoda
authors.forename: Takashi
authors.initials: T
authors.lastname: Sekine
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
mesh_terms: D058186:Acute Kidney Injury / Q000150:complications / Q000209:etiology; D000293:Adolescent; D000328:Adult; D001120:Arginine; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D015444:Exercise; D005260:Female; D006417:Hematuria / Q000209:etiology; D006639:Histidine; D006801:Humans; D007674:Kidney Diseases / Q000097:blood* / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins; D014057:Tomography, X-Ray Computed; D014364:Tryptophan; D014527:Uric Acid / Q000097:blood*; D014545:Urinary Calculi / Q000209:etiology
chemical_list: D002352:Carrier Proteins; D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human; D014527:Uric Acid; D006639:Histidine; D014364:Tryptophan; D001120:Arginine