Complexities of Bartter Syndrome Type III: A Case Study in Jordan

巴特综合征III型复杂性:约旦病例研究

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Abstract

Bartter Syndrome (BS) is a genetic disorder affecting the renal tubules, leading to elevated levels of renin, angiotensin, and aldosterone, along with metabolic alkalosis, while maintaining normal blood pressure. It is also associated with laboratory abnormalities such as hypocalcemia, hypokalemia, hypomagnesemia, and hyponatremia, which may result in neurological complications including seizures and loss of consciousness. These findings necessitate consideration of important differential diagnoses such as Gitelman syndrome and cystic fibrosis, underscoring the importance of confirming the diagnosis of this serious condition, giving it appropriate attention, and initiating early treatment to prevent advanced complications. We report the case of a 36-year-old Jordanian male with a medical history of Bartter Syndrome and chronic kidney disease, who presented to the emergency department in a coma with generalized seizures due to severe electrolyte imbalances. His condition was further complicated by a genetic predisposition and a family history of Bartter Syndrome, with genetic testing confirming mutations in the CLCNKB gene. This rare case of Bartter Syndrome type III, in which the patient progressed to the stage of hemodialysis, illustrates the complexities of diagnosis and management, and emphasizes the importance of continuous care and regular follow-up.

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