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KMID : 1130320070500050489
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Korean Journal of Pediatrics
2007 Volume.50 No. 5 p.489 ~ p.492
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A Case of idiopathic renal hypouricemia
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Han Moon-Hee
Shim Jung-Yeon
Kim Deok-Soo
Shim Jae-Won
Jung Hye-Lim
Park Moon-Soo
Park Sang-Uk
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Abstract
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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.
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KEYWORD
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Human urate transporter 1 (hURAT1) gene, idiopathic renal hypouricemia, SLC22A12 gene, Transient pseudohypoaldosteronism
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