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Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report

BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a progressive chronic disease that is inherited in an autosomal dominant fashion. Symptoms include hyperuricemia, gout, interstitial nephritis, renal cysts, and progressive renal damage that can lead to end-stage renal disea...

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Detalles Bibliográficos
Autores principales: Zhang, Li-Ling, Lin, Jia-Ru, Zhu, Ting-Ting, Liu, Qi, Zhang, Dong-Mei, Gan, Lin-Wang, Li, Ying, Ou, San-Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8638067/
https://www.ncbi.nlm.nih.gov/pubmed/34904096
http://dx.doi.org/10.12998/wjcc.v9.i33.10249