Condition Details
Cystic fibrosis (CF), is a hereditary/genetic/familial disease that mainly affects the lungs/respiratory/breathing and digestive/food pipe system of the body, causing progressive disability and for some, early death.
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MoreCystic fibrosis (CF), is a hereditary/genetic/familial disease that mainly affects the lungs/respiratory/breathing and digestive/food pipe system of the body, causing progressive disability and for some, early death.
The name cystic fibrosis refers to the characteristic 'fibrosis' (tissue scarring) and cyst(fluid filled ball) formation within the pancreas(body gland), first recognized in the 1930s.Formerly known as cystic fibrosis of the pancreas/a body gland organ, this entity has increasingly been labeled simply "cystic fibrosis".Average life expectancy is around 37 years, although improvements in treatments mean a baby born today could expect to live longer.
Difficulty breathing and insufficient enzyme production in the pancreas are the most common symptoms. Thick mucus production as well as a less competent immune system(disease fighting body mechanism) results in frequent lung infections, which are treated (though not always cured) by oral/mouth and intravenous/IV antibiotics and other medications. A multitude of other symptoms, including sinus (nose area) infections, poor growth, diarrhea, and potential infertility (mostly in males) result from the effects of CF on other parts of the body.
Cystic fibrosis is one of the most common life-shortening, childhood-onset inherited diseases. In the United States, 1 in 3900 children is born with CF. It is most common among Europeans and Ashkenazi Jews; one in twenty-two people of European descent carry one gene for CF, making it the most common genetic disease among such people.
CF is caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The product of this gene is a chloride ion channel important in creating sweat, digestive juices, and mucus/food and air tube lubricator. Although most people without CF have two working copies of the CFTR gene, only one is needed to prevent cystic fibrosis. CF develops when neither gene works normally. Therefore, CF is considered an autosomal(body gene chromosome) recessive(not dominant) disease.
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