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Unmasking of a Heterozygous SLC12A3 Variant

Chang Xu1,2, Pietra Greenberg1,2, Moses Bachan1

  • 1James J. Peters VAMC, Bronx, NY.

Kidney Medicine
|March 2, 2026
PubMed
Summary

Chlorthalidone use unmasked a Gitelman syndrome-like condition in a patient with a single functional thiazide-sensitive sodium-chloride cotransporter (SLC12A3) allele, causing severe electrolyte disturbances and weight loss. Genetic testing revealed a pathogenic variant in SLC12A3.

Keywords:
Gitelman syndromehypertensionhypokalemiahyponatremiathiazide

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