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Cystic Fibrosis

Cystic Fibrosis is a severe hereditary disease that infects the lungs, digestive system, sweat



glands and male fertility.   The name Cystic Fibrosis derives from the Fibrous scar tissue that



develops in the pancreas.   First recognized in 1938, cystic fibrosis is generalized as an autosomal



recessive disorder of the exocrine glands.   About one in every 2500 Caucasians is affected, and



one in 25 is a carrier of the cystic fibrosis gene.   Cystic fibrosis is the most common fatal



hereditary disorder of Caucasians in the United States and is the most common cause of chronic



lung disease in children and young adults.   Approximately 38,000 children and young adults in the



United States today.   About 3,000 babies are born with cystic fibrosis every year.   Several



decades ago many children with cystic fibrosis died by the age of 2.   Today, about half of the



people with cystic fibrosis live past the age of 31.   That number is expected to grow with the



continuing success of modern treatment.



Because cystic fibrosis is a genetic disease, it is caused by a defect in the person genes.  



These genes form the nucleus of all the body's cells and control cell function, serving as the



blueprint for the production of proteins (Gale 876).   The defective gene that causes cystic fibrosis



is called cystic fibrosis transmembrane conductance regulator, or for short, CFTR.   It is the

protein responsible for regulating chloride movement across cells in some tissues.   When a person



has two defective copies of the CFTR gene, cystic fibrosis is the result (Gale 876).   There are



over 500 known defects in the CFTR gene that can trigger cystic fibrosis (CF).   The gene defects



in cystic fibrosis are called point mutations.   As a result, the CFTR protein made from the CFTR



gene, is made incorrectly and cannot perform its function properly.   The CFTR protein helps



produce mucus which is a mixture of salts, waters, sugars and...