J Korean Med Sci.  2011 Sep;26(9):1238-1240. 10.3346/jkms.2011.26.9.1238.

A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia

Affiliations
  • 1Department of Internal Medicine, College of Medicine, Dankook University, Cheonan, Korea. jtcho@dankook.ac.kr

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.

Keyword

Acute Kidney Injury; Renal Hypouricemia; Mutation

MeSH Terms

Acute Kidney Injury/*diagnosis/genetics
Adult
Amino Acid Substitution
DNA Mutational Analysis
Exercise
Exons
Humans
Male
Mutation
Organic Anion Transporters/*genetics
Organic Cation Transport Proteins/*genetics
Renal Tubular Transport, Inborn Errors/etiology/*genetics
Urinary Calculi/etiology/*genetics
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