Bartter Syndrome is a rare inherited defect that affects the kidneys. A group of kidney disorders that cause an imbalance of potassium, sodium, chloride and related molecules in the body are the causes of this syndrome. The symptoms include constipation, growth failure, increased urination, low blood pressure, kidney stone, muscle cramping and weakness.
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?
There is no cure for these disorders. The treatment is based on the specific symptoms. It requires the coordinated efforts of a team of specialists such as Paediatricians and kidney specialists (nephrologists or Pediatric nephrologists). Some of the standard therapies are: genetic counseling, potassium chloride supplementation to help correct electrolyte imbalances, medications known as potassium-sparing diuretics such as spironolactone or amiloride, etc.
DID YOU KNOW?
Early diagnosis may improve growth and neuro intellectual development in infants