A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report

A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report

Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. The mundane clinica...

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Bibliographic Details
Main Authors: Ying Wang, Haibo Liu, Qingnan He, Zhuwen Yi, Yongzhen Li, Xiqiang Dang
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Nephrology
Subjects:
Hyperuricaemia
Kidney disease
ADTKD
UMOD
Online Access:http://link.springer.com/article/10.1186/s12882-020-02022-1

Internet

http://link.springer.com/article/10.1186/s12882-020-02022-1

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