Bartter Syndrome is a very rare kidney disease and is associated with five different gene defects. It is caused by a recessive gene. A person who is born with Bartter syndrome will receive one recessive gene from each parent. This is not a condition that shows up after birth, it is congenital. With Bartter Syndrome, the kidneys get rid of too much potassium, chloride, and sodium. The body in turn makes extra urine which causes the body to become dehydrated. Because of this dehydration, the body makes extra aldosterone. Hypokalemia (low potassium) is the result along with the pH of the blood becoming alkaline.
Bartter syndrome, which results in low potassium levels, deceased blood acidity, and normal to low blood pressure, is a rare defect in the thick ascending limb of the loop of Henle. It is an inherited syndrome.
In most cases (neonatal) t shows up between weeks 24 and 30 of gestation. It is detected by an excess of amniotic fluid. In the other small percent of cases (classic) it doesn't really start to be noticed until 5 or 6 years of age.
The cause of the syndrome is mutations of genes that encode the proteins that transport ions across renal cells i the thick ascending limb of the nephron. There are several genes that could possible mutate, causing a different type of Bartter syndrome:
Type 1 - defect in the NA-K-2Cl symporter of the NKCC2 gene
Type 2 - defect in the thick ascending limb K+ channel of the ROMK gene
Type 3 - defect in the Cl- channel of the CLCNKB gene
Type 4 - defect in the Cl- channel of the BSND gene
Type 5 - defect in the calcium- sensing receptor in the CASR gene
Bartter's syndrome, named after Dr. Frederic Bartter, a U.S. physician, is a renal disease which causes hyperplasia of the juxtaglomerular cells of the kidney which causes hypokalemic alkalosis (decreased serum potassium levels and a increase in pH) and elevated levels of aldosterone. Hypertension is usually not seen. Generally the disorder is seen in children. The exact cause is idiopathic.Some degree of growth retardation is usually seen.
Treatment consists of potassium supplements to correct the low serum potassium levels, ACE (angiotension converting enzyme inhibitors), and diuretics. If properly diagnosed, metabolic abnormalities can be easily controlled with the above medications.