A Rare Encounter with Gitelman Syndrome: A Case Report

Abstract

Background: Gitelman Syndrome (GS) is an autosomal recessive salt-wasting renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. Although globally recognized, GS is likely underdiagnosed in sub-Saharan Africa due to limited awareness and diagnostic constraints, with no previously documented cases from Kenya.

Case Presentation: We report a 57-year-old woman who presented with a two-day history of generalized weakness following a fall. Laboratory evaluation revealed profound refractory hypokalemia (1.6 mmol/L), metabolic alkalosis, severe hypomagnesemia, and hyponatremia, with preserved renal function. Urine studies demonstrated inappropriate renal potassium and magnesium wasting with marked hypocalciuria, consistent with GS. An ECG revealed prolonged QTc. There was no history of diuretic use, vomiting, diarrhoea, or renal disease. A clinical diagnosis of GS was made, as genetic testing, although ideal, could not be performed due to financial constraints. She was commenced on oral sodium chloride, potassium, and magnesium supplementation, resulting in significant symptomatic improvement and normalization of electrolyte disturbances.

Conclusion: This case highlights the importance of considering GS in adults presenting with persistent refractory hypokalemia and hypomagnesemia, particularly in resource-limited African settings. Early recognition and appropriate electrolyte replacement therapy significantly improve clinical outcomes. Importantly, GS can be reliably diagnosed clinically in appropriate settings even when genetic testing is unavailable. Increased awareness is essential to prevent misdiagnosis, reduce morbidity, and strengthen understanding of GS within the region.