Korean J Pediatr.  2007 May;50(5):489-492. 10.3345/kjp.2007.50.5.489.

A case of idiopathic renal hypouricemia

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

Keyword

Human urate transporter 1 (hURAT1) gene; Idiopathic renal hypouricemia; SLC22A12 gene; Transient pseudohypoaldosteronism

MeSH Terms

Acute Kidney Injury
Diagnosis
Follow-Up Studies
Hematuria
Humans
Infant
Male
Nephrolithiasis
Pseudohypoaldosteronism
Uric Acid
Uric Acid
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