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Cystic Fibrosis (AKA CF)

Mode of Inheritance CF is caused by the mutation of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The mutation that occurs most often is when 3 nucleotides are deleted. Only one gene of CFTR is needed to prevent CF. CF develops when the alleles don’t produce a CFTR protein. This makes CF is an autosomnal recessive gene. CF can be caused by thousands of other mutations. [] http://brandonlarson.vox.com/library/photo/6a01101669a631860d0110180c08cd860f.html

Description of Disorder

CF is an inherited disease that’s causes mucus not to form right causing extreme breathing difficulties. It can also cause problems in the digestive system. The mucus can clog the lungs and pancreas. While build up of mucus clogs the airways it also gives a home to bacteria. When bacteria begins to grow it can cause severe infections in the lungs and pancreas. When tubes in the pancreas are blocked by the mucus, digestive enzymes can’t reach the small intestine. This doesn’t allow the intestines to fully absorb the fats and proteins. CF also causes your sweat to become more salty. This can lead to dehydration, increased heart rate, weakness, decreased blood pressure and rarely death. Most people are diagnosed as an infant or before birth. Many children are killed each year by this disease. CF is carried by 12 million Americans. CF is mainly found in Caucasians of northern Europe decent. It can also be found in Latinos. It effects males and females alike and is carried by Jewish people. The average life expectancy for people with CF is around 37. CHildren used to not be expected to make it out of childhood. With advancements in treaatments of CF the life expectancy has risen dramatically.

Treatment

There is no known cure as of now. Treatments for CF include antibiotics, chest therapy, exercise, oxygen, and transplants. Antibiotics are used to destroy the bacteria in the lungs. Chest therapy includes repeatedly beating the back or chest in an attempt to knock mucus off the lungs and cough it up. Aerobic exercise cause better overall condition, loosens mucus, and encourages coughing. Gene therapy is being experimented in search of a way to cure this common disease. Lung transplants are sometimes necessary.

Detection

CF can be detected before symptoms appear and even before birth. There is parental testing to see if the parents carry CF and see if it will be inherited by the child. A sweat test can be preformed to see the amount of salt in the sweat and determine if the child has CF. New born screening can be used to help detect it but can not be diagnosed by this test. Amniocentesis tests amniotic fluid to detect the CFTR gene is present or not. Parents can have genetic testing done to see if they carry CF. CF can also be diagnosed by symptoms such as: salty tasting skin, wheezing, coughing with mucus, dehydration, abdominal pain, malnutrition, and poor growth.

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Sources

April 25, 2010. 
 * 1) “Cystic Fibrosis.” //What you need to know.//

2. “Cystic Fibrosis.” //Description and Treatment.// November 19, 2009. April 25, 2010. [] 3. “Cystic Fibrosis.” //About Cystic Fibrosis.// March 2009. April 25, 2010. 

4. “Cystic Fibrosis.” //What is Cystic Fibrosis.// April 18, 2010. April 25, 2010. 

5. Schoenstadt, Arthur. “Treatment for Cystic Fibrosis.” //An Overview of Cystic Fibrosis Treatment.// March 12, 2009. April 25, 2010. [|http://cystic-