Mutational analysis of idiopathic renal hypouricemia in Korea
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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.
KeywordsRenal hypouricemia SLC22A12 gene Exercise-induced acute renal failure Urolithiasis Hematuria
This study was supported by a grant from the Korea Health 21 R and D Project, Ministry of Health and Welfare, Republic of Korea (02-PJ1-PG3-21001-0012) and a grant from Seoul National University Hospital (03-2004-024-0).
- 1.Enomoto A, Kimura H, Chairoungdua A, Shigeta Y, Jutabha P, Cha SH, Hosoyamada M, Takeda M, Sekine T, Igarashi T, Matsuo H, Kikuchi Y, Oda T, Ichida K, Hosoya T, Shimokata K, Niwa T, Kanai Y, Endou H (2002) Molecular identification of a renal urate anion exchanger that regulates blood urate levels. Nature 417:447–452PubMedGoogle Scholar
- 5.Hisatome I, Tanaka Y, Kotake H, Kosaka H, Hirata N, Fujimoto Y, Yoshida A, Shigemasa C, Mashiba H, Sato R, Takeda A (1993) Renal hypouricemia due to enhanced tubular secretion of urate associated with urolithiasis: successful treatment of urolithiasis by alkalization of urine K+, Na(+)-citrate. Nephron 65:578–582PubMedGoogle Scholar
- 16.Diamond HS, Paolino JS (1973) Evidence for a postsecretory reabsorptive site for uric acid in man. J Clin Invest 52:1491–1499Google Scholar
- 23.Ames BN, Cathcart R, Schwiers E, Hochstein P (1981) Uric acid provides an antioxidant defence in humans against oxidant- and radical-causing aging and cancer: a hypothesis. Proc Natl Acad Sci USA 78:6853–6862Google Scholar