Bartter syndrome

Bartter syndrome, originally described by Bartter and colleagues in 1962, represents a set of closely related, renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis, and hyperreninemia with normal blood pressure. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. The different types of Bartter syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on restoring and maintaining the proper balance of fluids and electrolytes in the body.¹