Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine

지속적인 주황색 소변을 보인 URAT1 유전자 변이 신성 저요산혈증 1례

  • Lee Joo-Hoon (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Choi Jin-Ho (Department of Pediatrics, Chungnam National University Hospital) ;
  • Yoo Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine) ;
  • Jeong Jin-Young (Department of Pediatrics, Ulsan University Hospital) ;
  • Park Young-Seo (Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine)
  • 이주훈 (울산대학교 의과대학 서울아산병원 소아과) ;
  • 최진호 (충남대학교병원 소아과) ;
  • 유한욱 (울산대학교 의과대학 서울아산병원 소아과) ;
  • 정진영 (울산대학교병원 소아과) ;
  • 박영서 (울산대학교 의과대학 서울아산병원 소아과)
  • Published : 2006.04.01
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Abstract

Idiopathic renal hypouricemia is a disorder characterized by impaired urate handling in the renal tubules. Most patients with hypouricemia are asymptomatic and are found incidentally, but the condition is known to be at high risk for exercise-induced acute renal failure or urolithiasis. URAT1 protein encoded by SLC22A12 gene has been identified recently as a urate/anion exchanger in the human kidney. Inactivation mutations in SLC22A12 gene have been shown to cause renal idiopathic hypouricemia. We experienced a 3-year-old boy who presented with persistent orange-colored urine since infancy. His urine contained many uric acid crystals, while the serum showed hypouricemia(0.7 mg/dL). The fractional excretion of uric acid was increased to 41.7%. SLC22a12 gene analysis revealed W258X homozygote alleles. Renal hypouricemia must be included in the differential diagnosis of red-urine and SLC22A12 gene analysis is recommended in idiopathic renal hypouricemia.

저자들은 영아기부터 지속되는 주황색 소변을 보인 3세 남아에서 저요산혈증이 있었고 SLC22A12 유전자 검사를 시행한 결과 URAT1 유전자의 W258X 동형접합자(homozygote) 변이를 발견하였기에 보고한다.

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