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http://dx.doi.org/10.3339/jkspn.2021.25.1.44

A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone  

Joung, Jin Woon (Department of Pediatrics, Konyang University College of Medicine)
Song, Young Wha (Department of Pediatrics, Konyang University College of Medicine)
Kim, Jong Dae (Department of Pediatrics, Konyang University College of Medicine)
Cheon, Eun Jung (Department of Pediatrics, Konyang University College of Medicine)
Publication Information
Childhood Kidney Diseases / v.25, no.1, 2021 , pp. 44-48 More about this Journal
Abstract
Idiopathic renal hypouricemia (iRHUC) is a rare hereditary disease caused by a defect in urate handling of renal tubules. Type 1 renal hypouricemia (RHUC1) is diagnosed with confirmation of a mutation in SLC22A12 gene which encodes a renal urate-anion exchanger (URAT1). The majority of iRHUC patients are asymptomatic, especially during childhood, and thus many cases go undiagnosed or they are diagnosed late in older age with complications of hematuria, renal stones, or acute kidney injury (AKI). We report a case of a 7-year-old boy with subtle symptoms such as general weakness and dizziness and revealed hypouricemia and incidental nephrolithiasis. Homozygous mutations were detected in the SLC22A12 (c.774G>A) by molecular analysis. The present case suggests that fractional excretion of uric acid (FEUA) screening could be better followed by the coincidental discovery of hypouricemia, to prevent conflicting complications of iRHUC, even with normal urine uric acid to creatinine ratio (UUA/UCr), and sequential genetic analysis if needed.
Keywords
Idiopathic renal hypouricemia; SLC22A12 gene; Urate-anion exchanger; URAT1;
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