Effective Management of Gitelman Syndrome with Amiloride during Pregnancy and Breastfeeding: A Case Report

Background: Gitelman Syndrome (GS) is an autosomal-recessive tubulopathy marked by hypokalemia, hypomagnesemia, metabolic alkalosis, hyperreninemic hyperaldosteronism, and normotension. Managing GS during pregnancy and lactation is challenging due to physiological renal changes and concerns about the teratogenicity of conventional treatments. Methods: We document the case of a 20-year-old pregnant female diagnosed with GS, which was characterized by persistent hypokalemia and hypomagnesemia despite oral supplementation. Genetic testing confirmed GS through the identification of two pathogenic mutations in the SLC12A3 gene. Due to inadequate control with supplementation alone, amiloride was initiated and adjusted during pregnancy and postpartum periods. In this specific instance, the use of amiloride managed the patient’s electrolyte imbalances effectively, without observable adverse effects on the neonate. Results: The patient’s treatment comprised the administration of amiloride, along with potassium and magnesium supplements. Initially, amiloride was paused during the first trimester and resumed thereafter. Post-delivery, amiloride was temporarily halted during the initial weeks of breastfeeding and reintroduced due to persistent hypokalemia. Monitoring indicated no significant electrolyte disturbances in the neonate directly attributable to amiloride. Conclusion: While the extant literature about the use of amiloride during pregnancy is limited, this case highlights amiloride as a potential and viable option, under specific conditions, for managing electrolyte imbalances in GS during pregnancy and breastfeeding. It controlled persistent hypokalemia and hypomagnesemia effectively, with no significant adverse effects observed in the mother or infant. This report supports the consideration for cautious, heavily monitored use of amiloride in similar clinical scenarios. Nevertheless, further studies are recommended to thoroughly evaluate its safety and efficacy during pregnancy and lactation.