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What is Bartter Syndrome?

Felicia Dye
Felicia Dye

Bartter syndrome, sometimes referred to as potassium wasting, is a disease named after Dr. Frederic Bartter. The disease, which is characterized by abnormally low potassium levels, was first noted in the 1960s. This illness, which usually occurs in childhood, is genetic and incurable.

It is believed that Bartter syndrome is caused by gene mutations that prevent the kidneys from properly reabsorbing potassium. Also, it is believed that excessive amounts of potassium are taken from the body as a result. The types of genes that cause the problems determine the type of this syndrome from which a person suffers. Possibilities include neonatal and classic.

Bartter syndrome can cause constipation, frequent urination, and chronic vomiting. Suffers may experience muscle cramping. This disease also can prevent proper growth and result in life-threatening instances of dehydration.

Although it is not extremely common, Bartter syndrome can be found throughout the world. It has not been noted to be more prevalent among any particular race or to be gender-specific. In most cases, the disease is found in children.

Neonatal Bartter syndrome often is present before birth. Sometimes it can be detected during gestation by excessive amniotic fluid and then treated immediately after birth. Some babies with this condition may suffer blindness.

This disease often can be detected through blood and urine tests. In the blood, low levels of potassium and chloride are positive indicators. The disease also may be indicated by high levels of renin and aldosterone in the blood.

Doctor with a baby
Doctor with a baby

When a physician checks the urine of a person, he may be alerted by high levels of potassium, calcium, and chloride. Many of the symptoms above could be caused by other conditions. The urine test often is useful in helping to eliminate those possibilities.

A kidney biopsy also can be revealing. Those with Bartter syndrome often have excessive growth of the kidney cells. This, however, is not conclusive because excessive growth may not be found in small children.

Kidney failure can result from the disease. There also is a possibility that growth impairments may be permanent. In many cases, however, the disease can be well-managed.

Treatment of this condition can involve several things. Almost all cases require potassium supplements, but magnesium supplements also may be necessary. It also may be necessary for a patient to take medications that prevent the kidney from disposing of the potassium. A person generally is advised to alter her diet so that she consumes plenty of potassium-rich foods. She also likely will be advised to avoid dehydration.

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    • Doctor with a baby
      Doctor with a baby