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Causes
By Mayo Clinic staffIn cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition.
The affected gene, which is inherited from a child's parents, is a recessive gene. Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won't develop cystic fibrosis, but will be carriers and possibly pass the gene to their own children.
- What is cystic fibrosis? National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/cf/. Accessed March 26, 2012.
- Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-1-4377-1604-7..C2009-0-42832-0--TOP&isbn=978-1-4377-1604-7&uniqId=327451096-2. Accessed March 26, 2012.
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-1-4377-0755-7..C2009-0-60010-6--TOP&isbn=978-1-4377-0755-7&uniqId=327451096-2. Accessed March 27, 2012.
- Cystic fibrosis. National Library of Medicine. http://ghr.nlm.nih.gov/condition/cystic-fibrosis. Accessed April 2, 2012.
- What is bronchiectasis? National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/brn/brn_whatis.html. Accessed March 27, 2012.
- Cohen-Cymberknoh M, et al. Managing cystic fibrosis: strategies that increase life expectancy and improve quality of life. American Journal of Respiratory and Critical Care Medicine. 2011;183:1463.
- Rogan MP, et al. Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment. Chest. 2011;139:1480.
- Mogayzel PJ, et al. Update in cystic fibrosis 2010. American Journal of Respiratory and Critical Care Medicine. 2011;183:1620.
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