Case Report: Persistent hypokalemia due to Gitelmans Syndrome

Gitelmans syndrome (GS) is a rare disorder that affects the kidneys ability to reabsorb salt is a variant of Bartter’s syndrome. Chronic hypokalemia is a common symptom of GS.

In this case report, an asymptomatic 40-year-old male presented with persistent hypokalemia due to GS. Laboratory tests confirmed diagnosis and the patient was treated with low-dose aldosterone antagonists (spironolactone), angiotensin-converting enzyme inhibitors, and potassium and magnesium supplements. GS was confirmed with genetic testing, which also revealed a rare mutation.

The authors concluded that, “GS is a rare and real diagnostic and therapeutic challenge, for which a close collaboration between endocrinologists and nephrologists is mandatory, as also the thorough genetic investigation of the mutations associated with this syndrome.”

Reference

Mamalis D; Stratigou T, Vallianou NG, et al. Persistent hypokalemia due to a rare mutation in Gitelman’s Syndrome. Saudi J Kidney Dis Transpl. 2020;31(1):259-262.