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Cystic Fibrosis is a genetic disease affecting approximately 30,000 children and adults in the United States.
Cystic Fibrosis causes the body to produce an abnormally thick, sticky mucus, due to the faulty transport of sodium and chloride (salt) within cells lining organs such as the lungs and pancreas, to their outer surfaces. The thick CF mucus also obstructs the pancreas, preventing enzymes from reaching the intestines to help break down and digest food.
Cystic Fibrosis has a variety of symptoms. The most common are: very salty-tasting skin; persistant coughing, wheezing or pneumonia; excessive appetite but poor weight gain; and bulky stools. The sweat test is the standard diagnostic test for cystic fibrosis. This simple and painless test measures the amount of salt in the sweat. A high salt level indicates that a person has CF.
Method of Inheritance
One in 31 Americans (one is 28 Caucasians) - more than 10 million people - is an unknowing, symptomless carrier of the defective gene.
A individual must inherit a defective copy of the CF gene — one from each parent — to be have cystic fibrosis. Each time two carriers conceive a child, there is a 25 percent chance that the child will have CF; a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will be a non-carrier.
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The treatment of CF depends upon the stage of the disease and which organs are involved. One means of treatment, chest physical therapy, requires vigorous percussion (by using cupped hands) on the back and chest to dislodge the thick mucus from the lungs. Antibiotics are also used to treat lung infections and are administered intravenously, via pills, and/or medicated vapors which are inhaled to open up clogged airways. When CF affects the digestive system, the body does not absorb enough nutrients. Therefore, people with CF may need to eat an enriched diet and take both replacement vitamins and enzymes.
Progress Toward a Cure
Since the defective CF gene was discovered in 1989, the pace of Cystic Fibrosis research has greatly accelerated. In 1990, scientists successfully made copies of the normal gene, and added them to CF cells in laboratory dishes, which corrected the defective cells. The next major step was achieved in early 1993 when the first experimental gene therapy treatment was given to a patient with CF. Researchers modified a common cold virus to act as a delivery vehichle - carrying the genes to the CF cells in the airways. Several Foundation-supported studies are underway to test new versions of the cold virus, and other cutting-edge technology, such as fat capsules (liposomes) and synthetic vectors.
The Cystic Fibrosis Foundation
Supports and accredits more than 110 CF care centers nationwide which provide high-quality, specialized care for those with CF. These centers, located at major teaching and community hospitals, offer comprehensive diagnosis and treatment for people with CF and their families.
Supports the advancement of medical science by funding its own network of 10 CF research centers at leading universities and medical schools throughout the United States. By applying state-of-the-art science to targeted research opportunities, these centers are bringing us closer to a cure. The Cystic Fibrosis Foundation was the first voluntary health agency to create and fund such a network, the Research Development Program.
(800) FIGHT CF
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Cystic fibrosis, Health, Medicine, Clinical medicine, Sweat test, Cyst, Cystic fibrosis transmembrane conductance regulator, F508
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