Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome.

ABSTRACT:

Context

Gitelman syndrome (GS) is clinically heterogeneous. The genotype and phenotype correlation has not been well established. Though the long-term prognosis is considered to be favorable, hypokalemia is difficult to cure.

Objective

To analyze the clinical and genetic characteristics and treatment of all members of 13 GS pedigrees.

Methods

Thirteen pedigrees (86 members, 17 GS patients) were enrolled. Symptoms and management, laboratory findings, and genotype-phenotype associations among all the members were analyzed.

Results

The average ages at onset and diagnosis were 27.6 ± 10.2 years and 37.9 ± 11.6 years, respectively. Males were an average of 10 years younger and exhibited more profound hypokalemia than females. Eighteen mutations were detected. Two no

SUBMITTER: Zhong F 

PROVIDER: S-EPMC6531408 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature