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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bartter syndrome


Other Names for this Disease

  • Bartter's syndrome
  • Hypokalemic alkalosis with hypercalciuria
  • Potassium wasting
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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How is Bartter syndrome diagnosed?

Bartter syndrome is usually diagnosed after a combination of tests are performed on an individual with the signs and symptoms of the condition. Blood test results in an affected individual typically show low blood potassium levels (with normal blood pressure); low blood chloride levels; and an acid/base balance that is skewed towards the base (i.e. the blood is more alkaline than usual). High levels of the hormones renin and aldosterone in the blood would also support the diagnosis. Urine test results that would support the diagnosis include high levels of potassium and chloride, suggesting that the kidneys have impaired ability to control the concentrations of these electrolytes.[1] A positive genetic test result would confirm the diagnosis.
Last updated: 11/7/2011

Is genetic testing available for Bartter syndrome?

Yes, genetic testing for Bartter syndrome is available. GeneTests lists the names of laboratories that are performing clinical genetic testing for Bartter syndrome. To view a list of the clinical laboratories performing testing for each type of Bartter syndrome, click on the appropriate link below:

Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals interested in learning more will need to work with a health care provider or a genetics professional.

Last updated: 11/7/2011

References
  1. Bartter's syndrome. NORD. September 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/589/viewAbstract. Accessed 11/5/2011.


Other Names for this Disease
  • Bartter's syndrome
  • Hypokalemic alkalosis with hypercalciuria
  • Potassium wasting
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.