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Bartter syndrome

Definition

Bartter syndrome is a group of rare conditions that affect the kidneys.

Alternative Names

Potassium wasting; Salt-wasting nephropathy

Causes

There are 5 gene defects known to be associated with Bartter syndrome. The condition is present at birth (congenital).

The condition is caused by a defect in the kidneys' ability to reabsorb sodium. People affected by 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.

Symptoms

This disease usually occurs in childhood. Symptoms include:

  • Constipation
  • Rate of weight gain is much lower than that of other children of similar age and gender (growth failure)
  • Needing to urinate more often than usual (urinary frequency)
  • Low blood pressure
  • Kidney stones
  • Muscle cramping and weakness

Exams and Tests

Bartter syndrome is usually suspected when a blood test finds a low level of potassium in the blood. Unlike other forms of kidney disease, this condition does not cause high blood pressure. There is a tendency toward low blood pressure. Laboratory tests may show:

These same signs and symptoms can also occur in people who take too many diuretics (water pills) or laxatives. Urine tests can be done to rule out other causes.

An ultrasound of the kidneys may be done.

Treatment

Bartter syndrome is treated by eating foods rich in potassium or taking potassium supplements.

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

Outlook (Prognosis)

Infants who have severe growth failure may grow normally with treatment. Over time, some people with the condition will develop kidney failure.

When to Contact a Medical Professional

Call your health care provider if your child is:

  • Having muscle cramps
  • Not growing well
  • Urinating frequently

References

Bakkaloglu SA, Schaefer F. Diseases of the kidney and urinary tract in children. In: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. Brenner and Rector's The Kidney. 10th ed. Philadelphia, PA: Elsevier; 2016:chap 74.

Guay-Woodford LM. Hereditary nephropathies and developmental abnormalities of the urinary tract. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 128.

Review Date:10/13/2015
Reviewed By:Walead Latif DO, nephrologist, Medical Director of Fresenius Vascular Care, and Clinical Assistant Professor of Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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