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A case report describes recurrent hypokalemia in a 17-year-old girl, revealing its underlying cause, Gitelman syndrome.
Electrolyte disturbances can sometimes mask rare underlying conditions. We describe the case of a 17-year-old girl with recurrent hypokalemia for several years who was ultimately diagnosed with Gitelman syndrome (GS)—an uncommon inherited renal tubular disorder caused by mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubule. Due to its rarity and nonspecific clinical presentation, GS is often underrecognised or misdiagnosed.
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Swaika et al. (2026) studied this question.
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