Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.

ABSTRACT:

Introduction

Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed by chance blood test. Aside from that, some cases are also diagnosed from tetanic symptoms associated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroid dysfunction and short stature are known, but the incidence rates for these complications have not yet been elucidated. In addition, no genotype-phenotype correlation has been identified in GS.

Methods

We examined the clinical characteristics and genotype-phenotype correlation in genetically proven GS cases with homozygous or compound heterozygous variants in SLC12A3 (n = 185).

Results

In our cohort, diagnostic opportunities were by chance blood tests (54.7%),

SUBMITTER: Fujimura J 

PROVIDER: S-EPMC6308995 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature