Cystic Fibrosis

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.