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Dent Disease Type 1: A Diagnostic Dilemma and Review

This case report describes a boy with a rare genetic disease that primarily affects the kidneys and has implications on growth and development. Dent disease type 1 is an X-linked tubulopathy mainly caused by inactivating mutations in the chloride voltage-gated channel 5 (CLCN5) gene. It is a rare bu...

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Detalles Bibliográficos
Autores principales: Soares, Ryan B, Bhat, Naina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9076049/
https://www.ncbi.nlm.nih.gov/pubmed/35530822
http://dx.doi.org/10.7759/cureus.23910