It is a rare inherited defect in the thick ascending limb of the loop of Henle. It is characterized by low potassium levels increased blood pH and normal to low blood pressure. There are two types: Neonatal and Classic. 1. Neonatal Bartter Syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid. After birth the infant is seen to urinate and drink excessively. Life threatening dehydration may result if not treated 2. Classic Bartter Syndrome may show symptoms within 2 years of life, but usually diagnosed at school age. 3. Other symptoms are vomiting and growth retardation
HOW IS BARTTER SYNDROME DIAGNOSED?
Bartter syndrome is diagnosed in the following ways: 1) Identification of characteristic symptoms 2) Analysis of patient history 3) Clinical evaluation and a variety of specialised tests including blood tests to determine serum electrolyte levels and urine tests to determine the presence of prostaglandin E2 and urine electrolytes. Molecular genetic testing, which detects mutations in specific genes known to cause the Bartter syndrome, can confirm a diagnosis.
HOW IS BARTTER SYNDROME TREATED?
Treatment methods for Bartter Syndrome are: • Administering sodium and potassium supplements • Aldosterone antagonists and diuretic spironolactone • Indomethacin for decreasing prostaglandin excretion • Growth hormone for short stature
DID YOU KNOW?
The Bartter Syndrome is named after Dr. Frederic Bartter who along with Dr. Pacita Pronove discovered the disease.