Bartter Syndrome

Excerpt

Bartter syndrome is an autosomal recessive disorder of salt reabsorption resulting in extracellular fluid volume depletion with low/normal blood pressure. It is characterized by several electrolyte abnormalities including low potassium and chloride and, in few cases, hypomagnesemia. Other abnormalities include high renin, secondary hyperaldosteronism, and elevated levels of prostaglandin E2. Acid-base manifestation is typically metabolic alkalosis.

Patients often present in infancy with failure to thrive. Various phenotypes are classified according to the site of impaired salt transport.

Important clinical variants are neonatal (antenatal) Bartter syndrome, classical Bartter syndrome, and Gitelman syndrome.