To evaluate the genotype-phenotype relationship of Gitelman syndrome in Chinese patients. We selected patients with Gitelman syndrome presenting hypokalemia. Medical history, clinical manifestations, laboratory test results, and imaging data of these patients were collected for analysis. Target gene sequencing was performed to evaluate the genotype-phenotype relationship. Gitelman syndrome was diagnosed based on medical history, clinical manifestations, laboratory test results, and imaging data.
Mounting evidence has implicated the SLC12A3 gene in essential hypertension. Here, we examined the potential associations of common variants of the SLC12A3 gene with blood pressure traits in Mongolians in China. Genomic DNA was extracted from 508 unrelated Mongolian patients with essential hypertension and 246 normotensive Mongolian subjects for genotyping. The genotype distributions of all selected polymorphisms were consistent with Hardy-Weinberg equilibrium.