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Cystic Fibrosis
Causes of Cystic Fibrosis (CF)
Cystic Fibrosis (CF) is caused by a defect in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of ions, such as chloride, and water, across cell membranes.
CF is caused by hundreds of different gene mutations. The most common mutation is delta F508, usually written as ΔF508.
Symptoms of Cystic Fibrosis
Thick, sticky mucus causes most of the symptoms of CF. The most common symptoms of CF include:
- Persistent cough, often with phlegm
- Frequent lung infections
- Wheezing or shortness of breath
- Very salty-tasting skin
- Poor growth or weight gain despite a good appetite
- Greasy, bulky, foul-smelling stools Stomach pain and discomfort caused by too much gas in the intestines
- Dehydration
Treatment
Because CF is a multisystem disease, treatment must be multidisciplinary, with a team of healthcare professionals providing comprehensive management of the patient.
Current therapy for CF is targeted at prevention and treatment of exacerbations. Care at the CF center includes inpatient as well as outpatient clinical care.
Useful Links:
European Cystic Fibrosis Society
National CF Association Web Sites
France: www.vaincrelamuco.org
Germany: www.muko.info
Italy: www.fibrosicistica.it
Spain: www.fibrosis.org
Source: EPG guide- www.epgonline.org/cystic-fibrosis/cystic-fibrosis.cfm
Last Updated 25-05-2010