There are five gene defects known to be associated with Bartter syndrome. The condition is present from before birth (congenital).
The condition is 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, which causes too much calcium in the urine.
This disease usually occurs in childhood. Symptoms include:
Increased frequency of urination
Low blood pressure
Muscle cramping and weakness
Signs and tests
The diagnosis of Bartter syndrome is usually suspected when low levels of potassium are seen 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:
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 other 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.
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.
The long-term outlook for patients with Bartter syndrome is not certain. Infants who have severe growth failure may grow normally with treatment. Although most patients remain well with ongoing treatment, some develop kidney failure.
Kidney failure is a possible complication.
Calling your health care provider
Call your health care provider if your child is:
Having muscle cramps
Not growing well
Guay-Woodford LM. Hereditary nephropathies and developmental abnormalities of the urinary tract. In: Goldman L, Schafer AI, eds.Cecil Medicine. 24th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 85.
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; Herbert Y. Lin, MD, PHD, Nephrologist, Massachusetts General Hospital; Associate Professor of Medicine, Harvard Medical School. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.