Abstract
Background: Bartter’s syndrome is a rare autosomal recessive renal tubular disorder
characterized by hypokalemia, hypochloremia, metabolic alkalosis, hyperreninemia
and hyperaldosteronemia with normotension. Bartter syndrome has five types; type 1
(mutation in sodium/potassium chloride transporter), type 2 (mutation in voltage gated
potassium channel), type 3 (mutation on chromosome 1 that encodes Barttin and makes
only kidney-specific chloride channel B non-functional), type 4 ( mutation in BSND gene
encoding Barttin and makes both kidney-specific chloride channels A & B non-functional)
and type 5 (L125P gain in function mutation in calcium-sensing receptor).
Case Presentation: A 28-year-old male was hospitalized for evaluation of nausea, vomiting,
generalized weakness and persistent chronic hypokalemia. Bartter’s syndrome was
suspected based on clinical and laboratory evidence, however serum aldosterone level was
normal. Further genetic testing confirmed the diagnosis of Bartter’s syndrome type 3.
Conclusions: We report a case of Bartter’s syndrome type 3 with a unique finding of normal
aldosterone level.