A rare case: evaluation of chronic hypoklemia in patient with Gitelman syndrome

Abstract

Gitelman syndrome (GS) is inherited in a recessive manner and is caused by inactivating mutations in the SLC12A3 gene characterized by the loss of salt, leading to hypokalemic metabolic alkalosis with concurrent hypomagnesemia and hypocalciuria. Hypokalemia is defined as a plasma potassium concentration of less than 3.5 mmol/l. A 24-year-old woman came with weakness and numbness in both lower limbs for the past 1 day and later extended to all four extremities. This patient had been admitted to hospital twice in the last 2 months with similar complaints. Laboratory results showed hypokalemia, hypocalcemia, hypomagnesemia, and metabolic alkalosis accompanied by elevated eGFR, anemia and increased potassium secretion in the distal tubules. Gitelman syndrome is the rare case and does not have specific symptoms, so the diagnosis depends on the accuracy of high clinical suspicion, especially those experiencing hypokalemia.