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

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

Abstract 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...

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Bibliographic Details
Main Authors: Randula Ranawaka, Nirmala Dushyanthi Sirisena, Kavinda Chandimal Dayasiri, Andrea G. Cogal, John C. Lieske, Manoji Prabashini Gamage, Vajira H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2017-10-01
Series:BMC Research Notes
Subjects:
Dent disease-1
Genetics
Low molecular weight proteinuria
Renal tubular disorder
X-linked recessive
Online Access:http://link.springer.com/article/10.1186/s13104-017-2881-5

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