Bartter syndrome is a rare inherited renal disorder.
On this page:
Epidemiology
Bartter syndrome affects 1 in 1,000,000 people 2.
Pathology
Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with 1,2:
hypokalemia
metabolic alkalosis
hypotension/normotension
elevated plasma renin
elevated aldosterone
antenatal polyhydramnios
Genetics
Numerous recessive inherited gene mutations affecting salt reabsorption in the thick ascending limb and Bartter syndrome have been divided into four types 2. Confusingly, two fifth types (with different underlying genetic mechanisms) have been reported 2.
History and etymology
First described in 1962 by American endocrinologist Frederic Crosby Bartter (1914-1983) 3.
Differential diagnosis
Gitelman syndrome: a closely associated disorder, milder than both subtypes of Bartter syndrome 2
Schwartz-Bartter syndrome: a separate entity characterized by hypertonicity of urine, hyponatremia and inability to excrete water load 1
Unable to process the form. Check for errors and try again.