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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.

Overview

Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue.[1] It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner.[2] The different types of Bartter syndrome are classified according to the specific gene that causes the condition.[1] Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body.[3]
Last updated: 11/7/2011

References

  1. Bartter syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/bartter-syndrome. Accessed 11/5/2011.
  2. G. Colussi. Bartter syndrome. Orphanet. July 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=112. Accessed 11/5/2011.
  3. Bartter's syndrome. NORD. September 23, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/589/viewAbstract. Accessed 11/5/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Bartter syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on Bartter syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
    Antenatal Bartter syndrome type I
    Antenatal Bartter syndrome type II
    Bartter syndrome type III
    Bartter syndrome type IV A
    Bartter syndrome type IV B
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bartter syndrome. Click on the link to view a sample search on this topic.
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.