Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

BACKGROUND: Dent disease is an X-linked form of progressive renal disease. This rare disorder was characterized by hypercalciuria, low molecular weight (LMW) proteinuria and proximal tubular dysfunction, caused by pathogenic variants in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes. Fanconi...

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Detalles Bibliográficos
Autores principales: Duan, Nan, Huang, Chenwei, Pang, Lu, Jiang, Shiju, Yang, Wenshuang, Li, Haixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802264/
https://www.ncbi.nlm.nih.gov/pubmed/33430795
http://dx.doi.org/10.1186/s12882-020-02225-6

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