All issues > Volume 50(5); 2007

Case Report

Korean J Pediatr. 2007;50(5):489-492. Published online May 15, 2007.

A case of idiopathic renal hypouricemia

Moon Hee MH Han¹, Sang Uk SU Park¹, Deok-Soo DS Kim¹, Jae Won JW Shim¹, Jung Yeon JY Shim¹, Hye Lym HL Jung¹, Moon Soo MS Park¹

¹Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea

Correspondence Moon Soo MS 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.

Keywords :Human urate transporter 1 (hURAT1) gene, Idiopathic renal hypouricemia, SLC22A12 gene, Transient pseudohypoaldosteronism