Bartter Syndrome Foundation

Bartter syndrome is a rare inherited disease caused by a tubular defect in the kidneys ability to reabsorb potassium. This makes the kidneys remove too much potassium from the body. Bartter syndrome is not a single disorder but rather a set of closely related disorders. It is a renal tubular salt-wasting disorder in which kidneys cannot reabsorb chloride. Failure to reabsorb chloride results in failure to reabsorb sodium and leads to excessive sodium and chloride ( salt ) delivery to the distal tubules, leading to excessive salt and water loss from the body. Bartter syndrome is an autosomal recessive disorder with a characteristic set of metabolic abnormalities (Hypokalemia, metabolic alkalosis, hyperplasia, juxtaglomerular apparatus and Hyperaldosteronism in some patients). Familial and sporadic forms of Bartter and Gitelman syndromes exist. There are five types of them. The table below illustrates the type and defective gene responsible for the disorder. Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form is the classical form; which begins in early childhood and tends to be less severe. Researchers split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Type IV is associated with hearing loss, it is called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome. My husband and I were so excited to know that our baby boy was on the way. My pregnancy was complicated and termed high-risk due to excessive water around the fetus called polyhydramnios. The excessive amniotic fluid had to be drained weekly through amniocentisis to prevent premature delivery. Due to the polyhydramnios, Ethan Daniel was born early at 36 weeks, 6.2 pounds. He was such a beautiful baby boy. At about 3 weeks old, we noticed that he spit up more than normal, was ...