title: A case of exercise-induced acute renal failure with G774A mutation in SCL22A12 causing renal hypouricemia.
abstract: 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.
authors.affiliation: Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea.
authors.forename: Yong Hyun
authors.initials: YH
authors.lastname: Kim
authors.forename: Jong Tae
authors.initials: JT
authors.lastname: Cho
mesh_terms: D058186:Acute Kidney Injury / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D015444:Exercise; D005091:Exons; D006801:Humans; D008297:Male; D009154:Mutation; D027361:Organic Anion Transporters / Q000235:genetics*; D027701:Organic Cation Transport Proteins / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000209:etiology / Q000235:genetics*; D014545:Urinary Calculi / Q000209:etiology / Q000235:genetics*
chemical_list: D027361:Organic Anion Transporters; D027701:Organic Cation Transport Proteins; C491241:SLC22A12 protein, human