Cystic Fibrosis By: Michael Crudele, William Foschi, Gabby Battagila
Cystic fibrosis Genetic Disorder Hereditary Causes very thick mucus to form in respiratory and digestive system No cure
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
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
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
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
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
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.