Mutational analysis of idiopathic renal hypouricemia in Korea
Mutational analysis of idiopathic renal hypouricemia in Korea
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DOI：
10.1007/s00467-005-1863-3
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发表时间：
2005-07-01
影响因子：
3
通讯作者：
Choi, Y
中科院分区：
文献类型：
--
作者：
Cheong, HI;Kang, JH;Choi, Y
特发性肾性低尿酸血症是一种以异常高的肾尿酸清除率为特征的遗传性疾病。大多数患者临床无症状，但可能出现急性肾功能衰竭（ARF）、尿石症或血尿。编码肾尿酸转运蛋白URAT1的SLC22A12基因的缺陷是已知的这种疾病的主要原因。在这项研究中，我们对5名韩国特发性肾性低尿酸血症患者的SLC22A12基因进行了突变分析。2例患者表现为显微镜下血尿，1例为尿酸尿石症，1例为运动性ARF。一名患者无症状。在4例患者中检测到W258X、R90H和R477H三种不同的突变。然而，在第5例ARF患者中未发现突变。这是SLC22A12基因突变首次在日本以外的国家进行研究。W258X被发现是韩国肾性低尿酸血症患者中主要的SLC22A12突变，日本也有报道。
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.