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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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Symptoms

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What are the signs and symptoms of Bartter syndrome?

The signs and symptoms associated with Bartter syndrome can vary depending on the form of Bartter syndrome an affected individual has.[1] The antenatal forms (beginning before birth) can be life-threatening, while the classical form, beginning in early childhood, tends to be less severe.[2]

The antenatal forms of Bartter syndrome (types I, II and IV) may first be characterized by abnormally high levels of amniotic fluid surrounding the affected fetus (polyhydramnios); premature delivery; and possibly life-threatening salt (sodium-chloride) loss.[3] Affected newborns may have fever, vomiting, diarrhea, failure to thrive, delayed growth, intellectual disability, and/or distinctive facial features (triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth).[1] Individuals with type IV may also have sensorineural deafness (hearing loss caused by abnormalities in the inner ear).[2]

Classical Bartter syndrome typically becomes apparent in infancy and is characterized by failure to thrive and constipation in the first year of life.[3] Symptoms may include salt craving, fatigue, muscle weakness, growth delay and developmental delay.[1]

Loss of excess sodium chloride through the urine can lead to dehydration, constipation, and increased urine production (polyuria). Loss of excess calcium through the urine (hypercalciuria) can cause weakening of the bones (osteopenia). When this excess calcium becomes deposited in the kidneys, tissue in the kidneys can become hardened (nephrocalcinosis). Low levels of potassium in the blood (hypokalemia) cause the muscle weakness, cramping, and fatigue in affected individuals.[4]
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.
  2. Bartter syndrome. Genetics Home Reference. February 2011; http://ghr.nlm.nih.gov/condition/bartter-syndrome. Accessed 11/5/2011.
  3. Proesmans W. Threading through the mizmaze of Bartter syndrome. Pediatric Nephrology. July 2006; 21(7):896-902.
  4. 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.