Friday Facts! Bartter Syndrome

Welcome to Friday Facts! here on the Knowledge Safari blog. Each week we aim to shine the spotlight on various segments of special needs in order to raise awareness and provide information. Today we focus on Bartter Syndrome.


There are five gene defects known to be associated with Bartter syndrome. The condition is present from before birth (congenital).

The condition is thought to be caused by a defect in the kidney's ability to reabsorb sodium. Persons with Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone and makes the kidneys remove too much potassium from the body. This is known as potassium wasting. The condition also results in an abnormal acid balance in the blood called hypokalemic alkalosis.

Symptoms

This disease usually occurs in childhood. Symptoms include:
Constipation
Growth failure
Increased frequency of urination
Low blood pressure
Kidney stone
Muscle cramping and weakness
Exams and Tests
Exams and Tests

The diagnosis of Bartter syndrome is usually suspected by finding low levels of potassium in the blood. The potassium level is usually less than 2.5 mEq/L. Unlike other forms of kidney disease, this condition does not cause high blood pressure and there is a tendency toward low blood pressure. Other signs of this syndrome include:

High levels of potassiumpotassium, calcium, and chloride in the urinechloride in the urine
High levels of the hormones reninrenin and aldosterone in the blood
Low blood chloride
Metabolic alkalosisalkalosis

These same signs and symptoms can also occur in people who have taken too many diuretics or laxatives. Urine tests can be done to rule out these causes.

In Bartter syndrome, a biopsy of the kidney typically shows too much growth of kidney cells called the juxtaglomerular apparatus. However, this is not found in all patients, especially in young children.

Treatment

Bartter syndrome is treated by keeping the blood potassium levelblood potassium level above 3.5 mEq/L. This is done by following a diet rich in potassiumdiet rich in potassium or taking potassium supplements.

Many patients also need salt and magnesium supplements, as well as medicine that blocks the kidney's ability to get rid of potassium. High doses of nonsteroidal anti-inflammatory drugs (NSAIDs) may also be used.

For more information visit: Medline Plus