An early onset Gitelman syndrome presenting in a boy with failure to thrive with recurrent hypokalemia and hypomagnesemia: a case report.

Abstract

Gitelman syndrome is an autosomal recessive, chronically salt-losing tubulopathy depicted by renal potassium wasting, hypokalemia, hypocalciuric, hypomagnesemia, metabolic alkalosis, and hyperreninemic hyperaldosteronism with average or low blood pressure. This case report describes a 10-year-old boy who presented with acute respiratory tract infection with respiratory distress, myalgia, generalized muscle weakness, and significant biochemical changes like hypokalemia, hypomagnesemia, and metabolic alkalosis associated with failure to thrive. Further investigations, like genetic testing, showed a SLC12A3 gene mutation, a pathogenic homozygosity variant, proving the diagnosis of Gitelman syndrome. The child needed Intensive Care Unit (ICU) admission for life-threatening electrolyte imbalances with Electrocardiogram (ECG) changes for the acute care and later, requiring a multidisciplinary team approach for the management. The early presentation of Gitelman syndrome in young children must be kept in mind, as it could be missed. The persistent metabolic alkalosis, hypokalemia and hypomagnesemia should raise the concern about the possibility of chronic salt-losing nephropathic conditions.