Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome.

ABSTRACT:

Introduction

Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy with limited clinical data.

Methods

Surveys were conducted with GS physicians in Europe and patients with GS in the Netherlands to compare findings with the general population.

Results

Data from 587 patients (25% pediatric) across 13 countries showed 93% were genotyped, with 94% having variants in SLC12A3. Children with GS were shorter and lighter than the general population, with lower bodyweight persisting into adulthood. The sex distribution was uneven, with more males in childhood and more females in adulthood. Patients with GS had the expected electrolyte disorders as well as significantly lower blood phosphate levels. Positive correlations were found between blood magnesium an

SUBMITTER: Wieers MLAJ 

PROVIDER: S-EPMC12640036 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature