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

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 report a 3-y...

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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Yang, Jing, Zhang, Yu, Zhou, Jianhua
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6505284/
https://ncbi.nlm.nih.gov/pubmed/31068150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1522-7
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