J Korean Soc Pediatr Nephrol > Volume 10(1); 2006 > Article
J Korean Soc Pediatr Nephrol 2006;10(1): 65-71.
지속적인 주황색 소변을 보인 URAT1 유전자 변이 신성 저요산혈증 1례
이주훈, 최진호, 유한욱, 정진영, 박영서
1울산대학교 의과대학 서울아산병원 소아과
2충남대학교병원 소아과
3울산대학교 의과대학 서울아산병원 소아과
4울산대학교병원 소아과
5울산대학교 의과대학 서울아산병원 소아과
A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine
Joo-Hoon Lee, Jin-Ho Choi, Han-Wook Yoo, Jin-Young Jeong, Young-Seo Park
1Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
2Department of Pediatrics, Chungnam National University Hospital
3Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
4Department of Pediatrics, Ulsan University Hospital
5Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine
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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.
Key words: Hypouricemia | URAT1 | SLC22A12 | Orange-colored urine
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