UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review

Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually leads to end-stage renal failure at fiftieth decades. Here, we repo...

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Bibliographic Details
Main Authors: Jing Yang, Yu Zhang, Jianhua Zhou
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Pediatrics
Subjects:
Autosomal dominant tubulointerstitial kidney disease
UMOD gene mutation
Hyperuricemia
Gout
ESRD
Online Access:http://link.springer.com/article/10.1186/s12887-019-1522-7

Internet

http://link.springer.com/article/10.1186/s12887-019-1522-7

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