The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.

ABSTRACT:

Background

Gitelman Syndrome (GS) patients frequently exhibit disrupted glucose metabolism, attributed to hypokalemia, hypomagnesemia and heightened aldosterone. This study delved into the genetic underpinnings linked to insulin resistance and diabetes in a GS patient, contextualized within his family history.

Methods

The hydrochlorothiazide and furosemide loading test were performed to ascertain the presence of GS. Oral glucose tolerance test (OGTT) evaluated glucose metabolism and insulin sensitivity. Whole-exome sequencing, validated by Sanger sequencing, was employed to confirm gene mutations, which were then tracked among the patient's relatives.

Results

Symptoms and laboratory examination confirmed the clinical diagnosis of GS. Comprehensive whole-exome sequenci

SUBMITTER: Yin Y 

PROVIDER: S-EPMC10850558 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature