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

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

Abstract 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 (D...

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Main Authors: Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou
Format: Article
Language:English
Published: BMC 2022-05-01
Series:BMC Nephrology
Subjects:
Dent disease
Bartter syndrome
OCRL
Case report
Online Access:https://doi.org/10.1186/s12882-022-02812-9

Internet

https://doi.org/10.1186/s12882-022-02812-9

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