Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource-Limited Setting.

Abstract

Gitelman syndrome (GS) is a rare inherited renal salt-wasting tubulopathy characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its nonspecific presentation often overlaps with that of more common pediatric conditions, leading to delayed diagnosis, particularly in resource-limited settings. We report an 11-year-old boy who presented with progressive weight loss, polyuria, polydipsia, and salt craving. His course was complicated by recurrent episodes of severe hypokalemia and hypomagnesemia, and he was initially evaluated for diabetes mellitus, other endocrine disorders, chronic infections such as tuberculosis, and malnutrition without a definitive diagnosis. During the index admission, he developed acute worsening of muscle weakness associated with severe hypokalemia and hypomagnesemia and biochemical findings consistent with renal salt wasting, supporting a diagnosis of GS in the absence of genetic testing. Management with correction of hypovolemia, electrolyte supplementation, liberal salt intake, and nutritional support led to marked clinical improvement and stabilization of biochemical abnormalities on follow-up. This case highlights the importance of maintaining a high index of suspicion for GS in children presenting with polyuria, polydipsia, salt craving, and unexplained electrolyte disturbances, particularly in resource-limited settings.