Article
Non-urate transporter 1-related renal hypouricemia and acute renal failure in an Israeli-Arab family.
Pediatric nephrology (Berlin, Germany) - 1 May 2009
Bahat Hilla, Dinour Dganit, Ganon Liat, Feldman Leonid, Holtzman Eli J, Goldman Michael
Abstract excerpt
Idiopathic renal hypouricemia (IRHU) is a rare hereditary disease, predisposing the individual to exercise-induced acute renal failure (EIARF) and nephrolithiasis, and it is characterized by increased clearance of renal uric acid. Most of the described patients are Japanese, who have loss-of-function mutations in the SLC22A12 gene coding for the human urate transporter 1 (URAT1) gene. An 18-year-old youth, who...
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