Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease

Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease

BackgroundAutosomal dominant tubulointerstitial kidney disease (ADTKD) caused by REN-causing pathogenic variants (ADTKD-REN) is a rare group of heritable diseases. ADTKD-REN often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosi...

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Bibliographic Details
Main Authors: Jingyu Ma, Zhijuan Hu, Qiong Liu, Jing Li, Jiejie Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Pediatrics
Subjects:
ADTKD
acute kidney injury
hyperuricemia
REN
renal insufficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1415064/full
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