Gitelman Syndrome with Atypical Presentation: Severe Hypokalaemia and Hearing Loss in a Young Woman

Abstract

Gitelman syndrome (GS) is a rare autosomal recessive tubular disorder characterized by hypokalaemia with metabolic alkalosis, hypomagnesemia, and hypocalciuria, caused by mutations in the SLC12A3 gene. Although it is not typically associated with hearing loss, it can overlap with Bartter phenotypes.

We report a 38-year-old woman with a history of sensorineural hearing loss presented to the emergency department with progressive weakness and paraesthesia. Laboratory tests showed severe hypokalaemia (2.1 mmol/L), metabolic alkalosis, and mild hypomagnesemia. Renal potassium and chloride wasting were demonstrated. Genetic testing revealed SLC12A3 compound heterozygosity for two pathogenic variants, confirming Gitelman syndrome.

The coexistence of sensorineural hearing loss and findings compatible with Gitelman syndrome shows that there can exist a phenotypic overlap between tubular salt-wasting disorders. It is important to do a genetic test for accurate diagnosis and management.