Cystic Fibrosis Presentation


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Cystic Fibrosis Presentation

  1. 1. Cystic Fibrosis (CF)Created by Hannah B.
  2. 2. What is Cystic Fibrosis? A genetic disorder caused by inherited mutations in the gene CFTR that causes problems in the lungs, digestive track, liver,airways, and many other areas of one’s body. In some cases it can lead to a certain type of diabetes and osteoporosis.
  3. 3. A chart describing how the cysticfibrosis gene is inherited, considering that it takes two of thegenes for thesymptoms ofthe disorder to be noticed.
  4. 4. Symptoms of Cystic Fibrosis Respiratory:  A persistent cough that produces thick mucus  Wheezing or lack of breath  A lowered ability to do exercise  Repetitive lung infections  A persistent stuffy nose and inflamed nasal passages Digestive:  Foul smelling and greasy stools  Unusually small amount of weight gain or growth  Intestinal blocking, especially in newborns  Severe constipation Other:  Infertility is common in both males and females, though more frequently in males  Salty tasting skin and sweat.
  5. 5. Here is a morevisualrepresentationof many of theproblemscaused byCystic Fibrosis.
  6. 6. DiagnosisThere are many ways for a doctor to diagnose CF. Now allinfants are screened for it in the United States, but as this wasonly recently implemented older children or adults sufferingfrom the previously mentioned symptoms may berecommended to be screened as well.Methods of Diagnosis:  Blood from infants can be tested for high levels of the chemical IRT.  A “sweat test” can be performed testing a sample of sweat. Abnormally high levels of salt can indicate that the person has CF.  Genetic tests can also show CF by doctors observing the specific malfunctions on the gene actually responsible for the disorder.
  7. 7. Cellular Causes of Cystic FibrosisCystic Fibrosis is caused by a mutation of the gene that contains theinstructions to create cystic fibrosis transmembrane conductanceregulator (CFTR). This mutation causes the sequence of amino acidsin this protein to be assembled wrong, which in turn causes the entireprotein not to fold correctly. When the incorrectly folded proteinenters the Endoplasmic Reticulum (ER), the ER recognizes theincorrect folding of the protein and marks it to be degraded. Thus, theprotein never even reaches the Golgi, let alone the cell membranewhere it belonged. Since the protein was intended to be a chloride ionchannel through the plasma membranes of cells that line majorpassageways in the body (such as airways and intestines) , thesodium-chloride concentrations are thrown off throughout theperson’s body. This ultimately causes the normally thin mucus withinone’s body to turn thick and sticky, and therefore immovable by ciliathat line the passageways.
  8. 8. Cellular Causes lead to Symptoms Thick mucus build up occurs due to cell malfunctioning from out of balance sodium and chloride concentrations. The mucus builds up in lungs and other passageways because it can not be moved by cilia. As the mucus builds up it traps bacteria which cause chronic lung infections to develop. The built-up mucus also blocks airways and intestines creating difficulty breathing and severe constipation.
  9. 9. Treatment of Cystic Fibrosis There is no cure for cystic fibrosis, or treatment to deal specifically with the disease itself, however there are many ways to treat its various symptoms. These are generally prescribed by a CF specialist, who can be found at most hospitals. Treatments vary heavily depending on the patient, but most treatments can fall under the categories of Respiratory Treatments and Digestive Treatments. There are also treatments to help with male infertility and other less common problems associated with CF.
  10. 10. Treatments for Respiratory Problems Treatments for issues concerning the lungs:  Chest Physical Therapy (CPT): repeated pounding of the chest and back to help dislodge mucus. This can be assisted by various machines and technologies.  Exercises: aerobic exercise acts similarly to CPT in dislodging mucus, and is highly suggested for all of its health benefits.  Medicines: This includes antibiotics to fight and prevent lung infections, anti-inflammatory medicines to reduce swelling in airways, bronchodilators which open up breathing passageways, and mucus thinners which can help, but not solve, the original problem of thick and sticky mucus. Oxygen therapy or even a lung transplant could become necessary for patients who develop advanced lung disease.
  11. 11. Treatments for Digestive Problems Nutritional Therapy: in which a specific plan is designed for each patient to make sure they get enough nutrition, since CF can prevent people from absorbing and digesting food correctly. These nutrition plans often include:  Oral pancreatic enzymes  Various vitamins  High-Calories shakes  Salt supplements or high salt diets to replace the excess salt lost in the sweat of a person with CF.  For severe cases sometimes nighttime feeding tubes are inserted into patients to provide extra nutrition. Mucus thinning medicines may also be used to aid with the buildup of mucus in the digestive tract. Surgery may become necessary to remove intestinal blockages. Doctors may also prescribe further highly specified medicines forindividuals with Cystic Fibrosis.
  12. 12. Living with CF (prognosis) The average life expectancy for people with cystic fibrosis in the United States, as of 2008, was 37.4 years. (Much improved from only fifty years ago when a newborn with CF wasn’t expected to live more than six months.) The difficulty in breathing and all of the daily treatments that must be performed (exercises, chest physical therapy, medicine taking, etc.) makes it far harder for people with CF to live their lives than for other people to live. Quality of life varies hugely between individuals with CF. Some people must sleep with a nutrition tube each night or rely on oxygen therapy, while some only suffer bad coughs for the majority of their day. Specific quality of life depends on specific protein mutations and environmental and developmental factors.
  13. 13. Bibliography"CFTR: The Gene Associated with Cystic Fibrosis." Gene Gateway- Exploring Genes and Genetic Disorders. The U.S. Department of Energy Biological and Environmental Research, 12 Sept. 2003. Web. 23 Oct. 2012. < Human_Genome/posters/chromosome/cftr.shtml>."Cystic Fibrosis." PubMed Health. Ed. Neil K. Kaneshiro, MD. A.D.A.M. Inc., 16 May 2012. Web. 22 Oct. 2012. <http:/>."Cystic Fibrosis." Wikipedia. Wikimedia Foundation, 23 Oct. 2012. Web. 23 Oct. 2012. <>."How Is Cystic Fibrosis Treated?" National Heart, Lung, and Blood Institute. National Institutes of Health, 01 June 2011. Web. 23 Oct. 2012. <http://>.Staff, Mayo Clinic. "Cystic Fibrosis." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 June 2012. Web. 23 Oct. 2012. < health/cystic- fibrosis/DS00287>.
  14. 14. Images BibliographyA drawing portraying how mucus builds up on outside of CF cells. Digital image. Genetic Science Learning Center. The University of Utah, 2012. Web. 23 Oct. 2012. <http://, C. Autorecessive. Digital image. Wikipedia. Wikimedia Foundation, 25 Mar. 2007. Web. 23 Oct. 2012. <http:// title=File:Autorecessive.svg&page=1>.Reuters, Thomson. Health Problems with Cystic Fibrosis. Digital image. Drug Information Online, 2012. Web. 23 Oct. 2012. < children.html>.