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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.

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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.