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A case of idiopathic renal hypouricemia  

Han, Moon Hee (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Park, Sang Uk (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Kim, Deok-Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan)
Shim, Jae Won (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Shim, Jung Yeon (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Jung, Hye Lym (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Park, Moon Soo (Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine)
Publication Information
Clinical and Experimental Pediatrics / v.50, no.5, 2007 , pp. 489-492 More about this Journal
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.
Keywords
Human urate transporter 1 (hURAT1) gene; Idiopathic renal hypouricemia; SLC22A12 gene; Transient pseudohypoaldosteronism;
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