Bartter syndrome
Potassium wasting; Salt-wasting nephropathy
Bartter syndrome is a group of rare conditions that affect the kidneys.
Aldosterone is a hormone released by the adrenal glands. It is part of the complex mechanism used by the body to regulate blood pressure. Aldosterone increases the reabsorption of sodium and the excretion of potassium in the distal tubules of the kidneys. The reabsorption of sodium is accompanied by the reabsorption of water, which raises blood pressure.
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. 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 sex (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:
- High levels of potassium, calcium, and chloride in the urine
- High levels of the hormones, renin and aldosterone, in the blood
- Low blood chloride
- Metabolic alkalosis
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
Contact your health care provider if your child is:
- Having muscle cramps
- Not growing well
- Urinating frequently
References
Dixon BP. Inherited tubular transport abnormalities: Bartter syndrome. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 549.
Guay-Woodford LM. Hereditary nephropathies and developmental abnormalities of the urinary tract. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 119.
Mount DB. Disorders of potassium balance. In: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. Brenner and Rector's The Kidney. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 17.
Version Info
Last reviewed on: 10/31/2021
Reviewed by: Walead Latif, MD, Nephrologist and Clinical Associate Professor, Rutgers Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
