Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review.

ABSTRACT: Gitelman syndrome is an autosomal recessive disease mostly associated with loss-of-function mutations of the SLC12A3 gene and featured by clinical hypokalemia, hypomagnesemia, hypocalciuria, and histologically hypertrophy of the juxtaglomerular apparatus. A novel homozygous mutation (p.Arg399Pro) at the extracellular domain of SLC12A3 was found and correlated with the severe clinical manifestations.

SUBMITTER: Xia MF 

PROVIDER: S-EPMC5412754 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature