J Korean Soc Pediatr Nephrol.
2006 Apr;10(1):65-71.
A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine
- Affiliations
-
- 1Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine, Seoul, Korea. yspark@amc.seoul.kr
- 2Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea.
- 3Department of Pediatrics, Ulsan University Hospital, Ulsan, Korea.
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone
- A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
- Severe Acute Kidney Injury with Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12
- A case of idiopathic renal hypouricemia
- A Case of Recurrent Exercise-Induced Acute Renal Failure and Renal Hypouricemia with R90H Mutation in a SCL22A12 Gene
