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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 five 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. Persons 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
  • Growth failure
  • Increased frequency of urination
  • Low blood pressure
  • Kidney stone
  • 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. Other signs of this syndrome include:

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.

Biopsy of the kidney may be done to confirm Bartter syndrome. A biopsy is a medical procedure that removes a small piece of kidney tissue for examination.

Treatment

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

Many patients 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. Most patients remain well with ongoing treatment, though some develop kidney failure.

Possible Complications

Kidney failure or gallstones is a possible complication.

When to Contact a Medical Professional

Call your health care provider if your child is:

  • Having muscle cramps
  • Not growing well
  • Urinating frequently

References

Chan JC, Santos F, Hand M. Fluid, electrolyte, and acid-base disorders in children. In: Taal MW, Chertow GM, Marsden PA, et al., eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 74.

Guay-Woodford LM. Hereditary nephropathies and developmental abnormalities of the urinary tract. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 24th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 85.

Puricelli E. Bettinelli A, Borsa N, et al. Long-term follow-up of patients with Bartter syndrome type I and II. Nephrol Dial Transplant. 2010;25:2976-81. PMID: 20219833 www.ncbi.nlm.nih.gov/pubmed/20219833.

Review Date:11/7/2013
Reviewed By:Brent Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and /the A.D.A.M. Editorial team.

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