The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

BACKGROUND: Dent disease-1 is a rare X-linked recessive renal tubular disorder caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. It is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure....

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Detalles Bibliográficos
Autores principales: Ranawaka, Randula, Sirisena, Nirmala Dushyanthi, Dayasiri, Kavinda Chandimal, Cogal, Andrea G., Lieske, John C., Gamage, Manoji Prabashini, Dissanayake, Vajira H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663100/
https://www.ncbi.nlm.nih.gov/pubmed/29084614
http://dx.doi.org/10.1186/s13104-017-2881-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663100/
https://www.ncbi.nlm.nih.gov/pubmed/29084614
http://dx.doi.org/10.1186/s13104-017-2881-5

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