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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Korean Society of Pediatric Nephrology
2021-06-01
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| Cyfres: | Childhood Kidney Diseases |
| Pynciau: | |
| Mynediad Ar-lein: | http://www.chikd.org/upload/ckd-25-1-44.pdf |
| Tagiau: |
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
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