A Case of Idiopathic Renal Hypouricemia with Gene Mutation Showing General Weakness and Incidental Renal Stone
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 patient...
Bewaard in:
| Hoofdauteurs: | , , , |
|---|---|
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Korean Society of Pediatric Nephrology
2021-06-01
|
| Reeks: | Childhood Kidney Diseases |
| Onderwerpen: | |
| Online toegang: | http://www.chikd.org/upload/ckd-25-1-44.pdf |
| Tags: |
Geen labels, Wees de eerste die dit record labelt!
|