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Cystic Fibrosis Cystic fibrosis is an autosomal disorder that affects chromosome #7 and those that are affected have a total of 23 chromosomes. It’s autosomal because men can be carriers of the gene. CF (cystic fibrosis) disrupts the normal function of epithelial cells; cells that make up the sweat glands in the skin and that line the passageways inside the lungs, liver, pancreas, digestive and reproductive systems. The CF gene directs the body’s epithelial cells to make a defective form of a protein called CFTR ( Cystic Fibrosis Trans-membrane Gene). CFTR is found in cells that line the lungs, digestive tract, sweat glands, the reproductive and urinary systems. So, when the CFTR gene mutates, the epithelial cells can’t regulate the amount of or the way salt passes through the cell membrane. The balance of salt and water that makes a thin coating of mucus inside the lungs, pancreas, etc., becomes thick and sticky. Lung infections Digestion problems (mucus prevents enzymes from reaching the intestines to aid digestion) Skin tastes salty Inability to reproduce Persistent coughing, at times with phlegm Wheezing or shortness of breath; Poor growth/weight gain in spite of a good appetite Frequent greasy, bulky stools or difficulty in bowel movements Belly pain from severe constipation Increased gas, bloating, or a belly that appears swollen (distended) Nausea and loss of appetite Sinus pain or pressure caused by infection Fatigue Recurring pneumonia Weight loss Repeated inflammation of the pancreas (pancreatitis)
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Thanks to medical advancements, the average life span of those affected by CF is 37 years old *Death is usually caused by lung complications ** Outside Factors ** Some factors that can make this disorder worse are: 1) Smoke, fumes, fireplace smoke 2) Dust and dirt 3) Household chemicals 4) Mold or mildew

* Ali, 20, and Christina, 13, (who have Cystic Fibrosis) sang Miley Cyrus' "The Climb" on "America's Got Talent" Statistics

 I. About 1,000 new cases of cystic fibrosis are diagnosed each year.  II. More than 70% of patients are diagnosed by age two.  III. More than 45% of the CF patient population is age 18 or older.  IV. An estimated 10-12 million Americans are carriers of the gene  V. The disease occurs in 1 in 2,500 to 3,500 Caucasian newborns, 1 in 17,000 African Americans and 1 in 31,000 Asian Americans Extra Information 1) The most common mutation (observed in 70% of cystic fibrosis patients) is a three-base deletion in the DNA sequence.

2) In the 50′s patients had a life expectancy of 5 years alone. Now they can live up to 40 or even 50 years. <span style="color: #cc0066; font-family: 'Cambria','serif'; font-size: 21.3333px;">3) The gene responsible for cystic fibrosis was discovered in 1989 <span style="color: #cc0066; font-family: 'Cambria','serif'; font-size: 21.3333px;">4) Patients with CF have to clear their airways 1-4 times a day by coughing up the mucus in their airways. <span style="color: #cc0066; font-family: 'Cambria','serif'; font-size: 21.3333px;">5) The Sweat Test is used to determine if someone has CF because those with CF tend to have a high salt content in their sweat. <span style="color: #cc0066; font-family: 'Cambria','serif'; font-size: 21.3333px;">6) Another symptom of CF is ‘clubbed fingers’

Web References: 1) [] 2) [|http://kidshealth.org/parent/medical/lungs/cf.html#] 3) [] 4) []

Book Reference: 1) Karen, Hopkin, PhD. //Understanding Cystic Fibrosis//. 1. Mississippi: University Press of Mississippi, 1998. 133. Print.

Pictures: 1) [] 2) http://www.web-books.com/eLibrary/ON/B0/B34/09MCysticFibrosis.html 3) http://2011gtms8f.wikispaces.com/Cystic+Fibrosis+Christa+M 4) [] 5) [] 6) [] 7) []