A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia

A novel SLC12A3 homozygous c2039delG mutation in Gitelman syndrome with hypocalcemia

Abstract Background Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive Na/Cl cotransporter (NCCT) in the distal renal tubule. Case presentation A 23-year-old woman was admitted with limb numb...

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Bibliographic Details
Main Authors: Wenjun Yang, Shaoli Zhao, Yanhong Xie, Zhaohui Mo
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Nephrology
Subjects:
Gitelman syndrome
SLC12A3 gene mutation
Hypocalcemia
Online Access:http://link.springer.com/article/10.1186/s12882-018-1163-3

Internet

http://link.springer.com/article/10.1186/s12882-018-1163-3

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