Recurrent infection-associated hypokalemia leading to the diagnosis of Gitelman syndrome: a case report

BACKGROUND: Gitelman syndrome (GS) is an inherited renal tubulopathy characterized by chronic hypokalemia, hypomagnesemia, and metabolic alkalosis. CASE PRESENTATION: We report a case of a 36-year-old GS woman, who experienced recurrent respiratory tract infections over three years, and each episode was associated with severe hypokalemia and variable potassium requirements across episodes. Despite intermittent potassium supplementation, mild hypokalemia persisted between episodes. During a recent acute respiratory infection, the serum potassium dropped to as low as 1.80 mmol/L, accompanied by elevated inflammatory markers, including interleukin-6(IL-6). This observation describes a temporal association between infection and hypokalemic episodes but does not establish a causal relationship. The genetic testing identified compound heterozygous variants in SLC12A3. After initiation of regular oral potassium supplementation and infection-prevention measures, no further hospitalizations occurred during follow-up. CONCLUSION: This case illustrates how recurrent infection-associated hypokalemia may unmask previously unrecognized Gitelman syndrome and underscores the importance of early recognition of Gitelman syndrome and adequate long-term potassium supplementation to mitigate complications of chronic hypokalemia.