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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
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Cause

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What causes Bartter syndrome?

Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified.[1]

All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.[1]
Last updated: 11/7/2011

References
  1. 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.


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.