Cystic fibrosis
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  • 1. Cystic Fibrosis By: Michael Crudele, William Foschi, Gabby Battagila
  • 2. Cystic fibrosis Genetic Disorder Hereditary Causes very thick mucus to form in respiratory and digestive system No cure
  • 3. Symptoms Salty skin Under average growth and development despite healthy diet Persistent coughing Shortness of breath Frequent lung infections Digestive related problems: diabetes, pancreatitis, and malnutrition
  • 4. Causes Genetic mutation Most common mutation is ΔF508. Deletes 3 amino acids along the CFTR gene The mutation is an autosomal recessive gene Purple: Unaffected Carriers Blue: Unaffected The gene will then produce Red: Affected a bad CFTR protein
  • 5. Causes (Continued) The CFTR gene is located towards the bottom of the larger half of the chromosome (q31.2) The ΔF508 results in a CFTR protein that is missing a fold and cannot complete its function as a pump to balance chloride, iodide and other chemicals inside and outside the cells These chemicals then will cause very thick, nutrient-rich mucus to form which lets bacteria thrive
  • 6. Treatment and Prognosis for CF  Machines are made to shake mucus loose by pounding the chest and back to help problems in the lungs  Antibiotics and anti-inflammatory medicines are used to help treat and prevent lung infections  Well balanced and high calorie meals are used to help nutritional problems  Vitamins are taken as well as a feeding tube to provide nutrients for the patient while sleeping
  • 7. CF’s effect in society CF affects about 30,000 people in the U.S. and about 70,000 world wide It is most common to find CF in Caucasians; about 1 in every 3,000 will have CF Patients diagnosed with CF are having dramatic increases in lifespan; it is now near 30-40, whereas patients in the 1950’s would most likely not live past 12
  • 8. Bibliography Childers M, Eckel G, Himmel A, Caldwell J (2007). "A new model of cystic fibrosis pathology: lack of transport of glutathione and its thiocyanate conjugates". Medical Hypotheses 68 (1): Rowe SM, Miller S, Sorscher EJ (May 2005). "Cystic fibrosis". The New England Journal of Medicine 352 (19): 1992–2001 "About Cystic Fibrosis." Cystic Fibrosis Foundation. Cystic Fibrosis Foundation, n.d. Web. 18 Dec. 2012. "Cystic Fibrosis." Genetics Home Reference. U.S. Department of Health & Human Services, 17 Dec. 2012. Web. 18 Dec. 2012. "How Is Cystic Fibrosis Treated?" National Heart Lung and Blood Institute. U.S. Department of Health & Human Services, 01 June 2011. Web. 18 Dec. 2012. Signs and Symptoms of Cystic Fibrosis. Digital image. National Heart Lung and Blood Institute. U.S. Department of Health & Human Services, 01 June 2011. Web. 18 Dec. 2012. "Treatments." Cystic Fibrosis Foundation. Cystic Fibrosis Foundation, n.d. Web. 18 Dec. 2012. "What Are the Signs and Symptoms of Cystic Fibrosis?" National Heart Lung and Blood Institute. U.S. Department of Health & Human Services, 01 June 2011. Web. 18 Dec. 2012.