Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BACKGROUND: Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD). It is caused by mutations in the chloride voltage-gated channel 5 (CLCN5) gene (Dent disease-1), or in the OCRL gene (Dent dise...

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Detalles Bibliográficos
Autores principales: Drosataki, Eleni, Maragkou, Sevasti, Dermitzaki, Kleio, Stavrakaki, Ioanna, Lygerou, Dimitra, Latsoudis, Helen, Pleros, Christos, Petrakis, Ioannis, Zaganas, Ioannis, Stylianou, Kostas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097321/
https://www.ncbi.nlm.nih.gov/pubmed/35549682
http://dx.doi.org/10.1186/s12882-022-02812-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097321/
https://www.ncbi.nlm.nih.gov/pubmed/35549682
http://dx.doi.org/10.1186/s12882-022-02812-9

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