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Bartter Syndrome

Inherited Kidney Disease

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Updated June 18, 2014

kidney anatomy

Bartter syndrome affects the kidneys

Photo © A.D.A.M.
Bartter syndrome is an inherited kidney disease thought to be caused by a defect in the kidney’s ability to reabsorb potassium. This makes the kidneys remove too much potassium from the body.

Bartter syndrome is inherited in an autosomal recessive pattern, although sometimes it may occur in someone with no family history of the disorder. It is not known exactly how often Bartter syndrome occurs, but one study estimates it to affect 1.2 individuals per million people. It seems to occur more often in children born to parents who are consanguineous, or closely related. Bartter syndrome affects both males and females of all ethnic backgrounds.

Symptoms

Symptoms of Bartter syndrome may include:
  • generalized weakness and fatigue
  • increased urination (polyuria)
  • increased thirst (polydipsia)
  • waking up at night to urinate (nocturia)
  • mild dehydration
  • craving salt
  • muscle cramping
  • constipation
Children with Bartter syndrome have difficulty growing and developing normally.

Diagnosis

Bartter syndrome is usually diagnosed in childhood based on physical examination, the symptoms present, and the results of laboratory blood and urine tests. These include:
  • low level of potassium in the blood
  • high level of potassium in the urine
  • low level of chloride in the blood
  • high level of chloride in the urine
  • high levels of the hormones renin and aldosterone in the blood
Gitelman syndrome is similar to Bartter syndrome so additional tests may be needed to determine which disorder is present.

Treatment

Treatment of Bartter syndrome focuses on keeping the blood potassium at a normal level. This is done by having a diet rich in potassium and taking potassium supplements if needed. There are also drugs that reduce the loss of potassium in the urine, such as spironolactone, triamterene, or amiloride. Other medications used to treat Bartter syndrome may include indomethacin, captopril, and in children, growth hormone.

Sources:

"Bartter Syndrome." Medical Encyclopedia. 15 Oct 2008. MedlinePlus. 30 Mar 2009

"What is Bartter’s Syndrome?" Articles. 5 Oct 2008. The Bartter Site. 30 Mar 2009

"Bartter Syndrome." Tubular and Cystic Kidney Disorders. Dec 2006. The Merck Manuals Online Medical Library. 30 Mar 2009

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