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A case of idiopathic renal hypouricemia

Korean Journal of Pediatrics 2007;50(5):489-492.
Published online May 15, 2007.
A case of idiopathic renal hypouricemia
Moon Hee Han, Sang Uk Park, Deok-Soo Kim, Jae Won Shim, Jung Yeon Shim, Hye Lym Jung, Moon Soo Park
Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea
신성 저요산혈증 1례
한문희, 박상욱, 김덕수, 심재원, 심정연, 정혜림, 박문수
성균관대학교 의과대학 강북삼성병원 소아과
Correspondence: 
Moon Soo Park, Email: parkms2512@yahoo.co.kr
Abstract
Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. This disease usually produces no symptoms, but hematuria, uric acid nephrolithiasis or acute renal failure may develop. A defect in the SLC22A12 gene, which encodes the human urate transporter, is the known major cause of this disorder. We describe a 10-month-old boy with idiopathic renal hypouricemia. He was diagnosed with transient pseudohypoaldosteronism at admission, but hypouricemia was accidentally found through follow-up study. By gene analysis, his diagnosis was confirmed to idiopathic renal hypouricemia. In addition, we report a mutation in the human urate transporter 1 (hURAT1) gene identified in his family.
Key Words: Human urate transporter 1 (hURAT1) gene, Idiopathic renal hypouricemia, SLC22A12 gene, Transient pseudohypoaldosteronism


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