| A case of idiopathic renal hypouricemia |
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Moon Hee Han, Sang Uk Park, Deok-Soo Kim, Jae Won Shim, Jung Yeon Shim, Hye Lym Jung, Moon Soo Park |
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Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea |
| 신성 저요산혈증 1례 |
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한문희, 박상욱, 김덕수, 심재원, 심정연, 정혜림, 박문수 |
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성균관대학교 의과대학 강북삼성병원 소아과 |
Correspondence:
Moon Soo Park, Email: parkms2512@yahoo.co.kr
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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. |
| Key Words:
Human urate transporter 1 (hURAT1) gene, Idiopathic renal hypouricemia, SLC22A12 gene, Transient pseudohypoaldosteronism |
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