Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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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)
  • Received : 2021.04.08
  • Accepted : 2021.06.11
  • Published : 2021.06.30
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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.

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Acknowledgement

This research did not receive any specific grant from funding agencies in the public, commercial, or nonprofit sectors.

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