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Tuesday, January 21, 2020
Cystic Fibrosis Essays -- essays research papers fc
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 proteins. The role of the CFTR protein is to allow chloride ions to exit the mucus producing cells. It helps to keep mucus from becoming to thick and sluggish, allowing the mucus to be moved steadily. In CF, the CFTR protein cannot do its job properly, and cannot allow chloride ions out of the mucus producing cells. The mucus becomes thick and can lead to malnutrition a... ...ng they might live to see the next day.                                         Bibliography Claymen, Charles B. The American Medical Association Family Medical Guide.           New York : Random House., 1994 Cotran, Ramzis S. Kumar, Vinay. Robbins, Stanley L. Pathologic Basis of Disease.      Philadelphia, Pa : WB Saunders Company., 1994 Tierney, Lawerence M. Mcphee, Stephen J. Papadakis, Maxine A. Current Medical Diagnoisis           and Treatment. Stamford, CT : Appleton & Lange., 1997 Gale, James. The Encyclopedia of Genetic Disorders and Birth Defects. New York : Oxford.,           1991 Berhow, Robert. The Merck Manual of Medical Information. Whitehouse Station, NJ : Merk      & Co Inc., 1997     Â
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