Article
Mutational analysis of idiopathic renal hypouricemia in Korea.
Pediatric nephrology (Berlin, Germany) - 1 Jul 2005
Cheong Hae Il, Kang Ju Hyung, Lee Joo Hoon, Ha Il Soo, Kim Suhnggwon, Komoda Fusako, Sekine Takashi, Igarashi Takashi, Choi Yong
Abstract excerpt
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 transporte...
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