Cystic fibrosis (cf)


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Cystic fibrosis (cf)

  1. 1. Cystic Fibrosis (CF)
  2. 2. What is CF? Cystic Fibrosis is a hereditary disease that causes people to produce very thick mucus in their respiratory and digestive tracks. No cure has been found for CF yet but it does appear that CF is caused by a flaw in the membrane proteins of a cell.
  3. 3. Symptoms CF has many symptoms. Symptoms will often stand out at birth or infancy. Symptoms are  Frequent or acute lung infections  Very salty-tasting skin  Little growth and development despite a good and healthy appetite  Coughing and wheezing  Shortness of breath  A persistent cough, often coughing up mucus.
  4. 4. Diagnosis Near 70% of CF patients are diagnosed by the age of 2. To find CF, there are a variety of different test. Some tests are the sweat test, genetic testing, and newborn screening tests.
  5. 5. The Sweat Test. Diagnosis (Continued) Genetic/Blood Testing•The sweat test is a simple test done bysimply collecting the patients sweat. •Because CF is hereditary it can be found in a patient’s DNA.•A lab technician applies a chemical thatcauses perspiration onto the patients •People can be either carriers of CF,dermis and then adds a faint electrical affected by it, or be non-carriers thatcharge that will produce sweat. aren’t affected by it.•If there is a large content of sodium in C cthe sweat it does suggest CF might bethere if other symptoms are also evident *More CC Cc than 10 C Non-affectedNon-affected millionNewborn Screening Non-carrier. Carrier American•A newborn’s pancreas is tested to see -s would fall underif it produces a large amount of the Ccimmunoreactive trypsinogen. Cc Cc category. c Non-affected Affected•If larger than normal amounts are Carrier Carrierfound it does suggest that CF might bethere. C (gene that blocks CF) c (gene that doesn’t block CF
  6. 6. Causes CF has many different causes. But, they all deal with a genetic mutation on the 7th human chromosome. What happens is the cystic fibrosis transmembrane conductance regulator (CFTR) gene has a mutation along the chromosome. The CFTR gene produces a protein called the CFTR protein that helps regulate the flow of salt and water in and out of the cell. The most common mutation is called the ΔF508. This causes a deletion of three nucleotides along the gene. The gene then produces a bad protein that is missing three amino acids at the 508 th link of the amino acid chain in the protein. The bad CFTR protein deteriorates before it can reach the membrane. This results in an improper balance of salt and water inside or out of the protein causing abnormally thick mucus to form.
  7. 7. Effects CF takes large effects on individuals. A main problem is with the respiratory system. Because of such thick mucus, bacteria can grow extremely rapidly in the lungs and other parts of the respiratory system causing infections and it becomes too thick for the cilia to move out of the system. In addition, another major problem is within the digestive system. The thick mucus coats the pancreas to the point where it cannot release digestive enzymes into food to help break it down and get the nutrients into the body. This can cause a very slow and small amount of growth and weight increase in a person; which at times, can be quite dangerous to the individual. A proper CFTR protein.
  8. 8. Treatment CF treatments are now being backed up by organizations such as the Cystic Fibrosis Foundation and the American Lung Association. Because of this, new research is helping people fight against the disease.
  9. 9. Treatment- Diet. A healthy, high-calorie diet can improve the growth of someone who has CF if they take digestive enzymes to go with it. Eating plenty of fruits can provide one with natural antioxidants which will help reduce infection in lungs.
  10. 10. Treatment- Drug Therapy Many new drugs have been developed in research labs to combat CF symptoms. Many pills help add chemicals to CFTR proteins that can help them work properly so they can produce thinner mucus. This can reduce the effects of CF. Antibiotics also help fight and break cycles of infection in the lungs.
  11. 11. Prognosis CF can be very hard to live with for its patients. Plus, the average life expectancy of someone with CF is only about into their late 30’s. To help increase a CF patient’s life span, it is recommended that they are physically active and are improving their cardiovascular fitness. Because mucus is an ideal spot for infections, people with CF should try to avoid coming into contact with coughing people, sick people, or touching their mouth or nose after having touched something like a door knob or railing.
  12. 12. Bibliography Fibrosis Foundation, Diagnostics, Sweat Test. Cystic Fibrosis Foundation, 22 Mar. 2011. Web. 22 Oct. 2012. <>. N/A, N/A. "CFTR (gene)." Wikipedia. Wikimedia Foundation, 04 Sept. 2012. Web. 22 Oct. 2012. <>. F, Edward, Dr. "Global Healing Center." Health Products & Information. Global Healing Center, 24 Sept. 2008. Web. 23 Oct. 2012. < health/health-benefits-of- antioxidants/>. About UNLV." Cystic Fibrosis Walk. Ed. University of Nevada, Las Vegas. University of Nevada, Las Vegas, 2012. Web. 23 Oct. 2012. < stridesquot?delta=0>. Koboldt, Daniel C. "MassGenomics." Massgenomics. Wordpress, 2012. Web. 23 Oct. 2012. < fibrosis.html>.