- A Case of Idiopathic Renal Hypouricemia with SLC22A12 Gene Mutation Showing General Weakness and Incidental Renal Stone
-
Joung JW, Song YW, Kim JD, Cheon EJ
- KMID: 2518369
- Child Kidney Dis.
- 2021 Jun;25(1):44-48.
- doi: 10.3339/jkspn.2021.25.1.44
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... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
-
Kim HO, Ihm CG, Jeong KH, Kang HJ, Kim JM, Lim HS, Kim JS, Lee TW
- KMID: 2152087
- Electrolyte Blood Press.
- 2015 Dec;13(2):52-57.
- doi: 10.5049/EBP.2015.13.2.52
A 24-year-old male visited our hospital because of pain in both flanks. His biochemistry profile showed an elevated serum creatinine level and low serum uric acid level. History taking revealed... -
- CITED
-
- Close
- SHARE
-
- Close
- A Case of Idiopathic Renal Hypouricemia with URAT1 Gene Mutation who Showed Persistent Orange-colored Urine
-
Lee JH, Choi JH, Park YS, Yoo HW, Jeong JY
- KMID: 1578221
- J Korean Soc Pediatr Nephrol.
- 2006 Apr;10(1):65-71.
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... -
- CITED
-
- Close
- SHARE
-
- Close
