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首页> 外文期刊>Journal of Korean medical science. >A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
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A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia

机译：运动性急性肾功能衰竭伴S7742突变的SCL22A12引起肾性低尿酸血症一例

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摘要

Acute renal failure with severe loin pain which develops after anaerobic exercise is rare. One of predisposing factors of exercise-induced acute renal failure is renal hypouricemia. Idiopathic renal hypouricemia is a genetic disorder characterized by hypouricemia with abnormally high renal tubular uric acid excretion. The mutation in SCL22A12 gene which encodes renal uric acid transporter, URAT1, is the known major cause of this disorder. We here described a 25-yr-old man showing idiopathic renal hypouricemia with G774A mutation in SCL22A12 who presented exercise-induced acute renal failure. There have been a few reports of mutational analysis in Korean idiopathic renal hypouricemia without acute renal failure. This is the first report of genetically diagnosed idiopathic renal hypouricemia with exercise-induced acute renal failure in Korea.
机译：无氧运动后发生的急性肾功能衰竭伴有严重的腰部疼痛是罕见的。运动诱发的急性肾衰竭的诱发因素之一是肾低尿酸血症。特发性肾性低尿酸血症是一种以低尿酸血症为特征的遗传性疾病，其肾小管尿酸排泄异常高。编码肾尿酸转运蛋白URAT1的SCL22A12基因突变是导致这种疾病的主要原因。我们在此描述了一个25岁的男性，该男性在运动引起的急性肾衰竭中表现出SCL22A12中G774A突变的特发性肾低尿酸血症。在没有急性肾衰竭的韩国特发性肾性低尿酸血症中，已有少数突变分析报告。这是韩国首例经遗传学诊断为运动性急性肾功能衰竭的特发性肾低尿酸血症的报告。

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