Bartter syndrome

Full Definition

Bartter syndrome is a group of rare autosomal recessive disorders characterized by defective salt reabsorption in the thick ascending limb of Henle's loop. Children typically present with failure to thrive, polyuria, polydipsia, and recurrent dehydration. The condition is often diagnosed in infancy or early childhood and requires lifelong management with salt supplementation and potassium-sparing diuretics. Early recognition is crucial for preventing growth retardation and developmental delays.

Usage

Usage note: Always capitalize as it is an eponymous syndrome named after Dr. Frederic Bartter.

In Context

• "The infant's presentation of salt wasting and failure to thrive prompted genetic testing for Bartter syndrome." — case report
• "Children with Bartter syndrome require careful monitoring of electrolyte balance during intercurrent illnesses." — treatment guideline