Early onset of nephrogenic diabetes insipidus due to fabry disease in a child with GLA N215S mutation: Case report and literature review()

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disorder. Renal involvement in FD is characterized by proteinuria and progressive renal decline. Reports on FD with nephrogenic diabetes insipidus as the initial manifestation are rare. In this paper, we report a pediatric case with...

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Detalles Bibliográficos
Autores principales: Lu, Zhihong, Wang, Yan, Gao, Langping, Lin, Li, Hu, Lidan, Mao, Jianhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189486/
https://www.ncbi.nlm.nih.gov/pubmed/37205992
http://dx.doi.org/10.1016/j.heliyon.2023.e15993

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