A case of idiopathic renal hypouricemia.
10.3345/kjp.2007.50.5.489
- Author:
Moon Hee HAN
1
;
Sang Uk PARK
;
Deok Soo KIM
;
Jae Won SHIM
;
Jung Yeon SHIM
;
Hye Lym JUNG
;
Moon Soo PARK
Author Information
1. Department of Pediatrics, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea. parkms2512@yahoo.co.kr
- Publication Type:Case Report
- Keywords:
Human urate transporter 1 (hURAT1) gene;
Idiopathic renal hypouricemia;
SLC22A12 gene;
Transient pseudohypoaldosteronism
- MeSH:
Acute Kidney Injury;
Diagnosis;
Follow-Up Studies;
Hematuria;
Humans;
Infant;
Male;
Nephrolithiasis;
Pseudohypoaldosteronism;
Uric Acid
- From:Korean Journal of Pediatrics
2007;50(5):489-492
- CountryRepublic of Korea
- Language:English
-
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.
