Clinical challenges of Gitelman syndrome:

beyond hypokalemia

Abstract

Introduction: Gitelman syndrome is an autosomal recessive hereditary disorder caused by mutations in the SLC12A3 gene, characterized by metabolic alkalosis, hypokalemia, hypomagnesemia, and hypocalciuria, and producing clinical manifestations such as muscle cramps, arthralgia, a sensation of weakness, and loss of muscle strength, with blood pressure tending toward hypotension. The diagnosis is based on correlating clinical manifestations, physical examination findings, and electrolyte disorder reports; however, genetic testing ensures an accurate molecular diagnosis in a timely manner.
Case presentation: A 35-year-old man with a history of hypokalemia requiring hospitalization in an intermediate care unit in 2015, during which he underwent cardiopulmonary resuscitation and orotracheal intubation, presented with severe hypokalemia, moderate hypomagnesemia, and mild hypocalcemia. Recently, he presented with progressive muscle weakness in the upper and lower extremities, inability to stand, and difficulty walking, with blood pressure readings in stage 1 hypertension, accompanied by
severe hypokalemia and hypocalcemia. Intravenous electrolyte replacement was administered, with adequate clinical progress and improvement in her symptoms.
Conclusion: Gitelman syndrome, being an uncommon disorder in the general population, poses a clinical diagnostic challenge, since genetic and molecular tests are not readily accessible and their costs are often high. Recognizing its clinical manifestations contributes to timely diagnosis, which prevents consequences such as sudden cardiac death.