Case report of atypical presentation of Bartter's syndrome: hypertension and Hypokalemic nephropathy in a female patient.

Abstract

Bartter's syndrome (BS) is a rare hereditary disorder characterized by tubulopathies that affect salt reabsorption in the thick ascending limb of the Henle's loop. While BS typically presents with electrolyte imbalances and normal blood pressure, atypical presentations can complicate its diagnosis and management. We report the case of a 21-year-old female with BS diagnosed clinically at birth who presented with cough, vomiting, and elevated blood pressure. Despite a positive family history of BS, her presentation was unique with hypertension and hypokalemic nephropathy. Diagnostic evaluations during hospital admission revealed electrolyte imbalances, kidney dysfunction, and renal histopathological findings that were consistent with hypokalemic nephropathy. This case highlights the diverse clinical manifestations and potential complications of BS and emphasizes the importance of thorough evaluation and multidisciplinary management. Further research is needed to elucidate the underlying mechanisms linking BS with hypertension and hypokalemic nephropathy, and to guide targeted therapeutic strategies for complex presentations.