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Transcript of Cystic Fibrosis
Chest clapper Surgeries:
Nasal Polyp Removal
Lung Transplant There is no cure. We can all help by volunteering and/or coordinating: Marathons
And more! Clinical Trial DONATE! The genetic disorder affects the protein CFTR
Regulates Chlorine Ions (Cl-)
Not all the same
70% is linked to PHE 508
All effects CFTR Cl- Helps mucin
Mucin makes mucus
Lungs The overall prognosis of cystic fibrosis has not changed in recent years; it is still premature death. Most of the major symptoms of cystic fibrosis stems from the build of mucus. Salty skin
Difficulty with bowel movement
Poor growth/ weight gain in spite of a good diet
Frequent lung infections
Wheezing lung shortness of breath
Persistent coughing at times; often with phlegm In 1959, the median age for children being diagnosed with cystic fibrosis was 2 years In 2008 the median age for cystic fibrosis was 37 years Life expectancy has improved in recent years due to advancements in treatment.
Airway Clearance Techniques 2002 - Azithromycin and its effect on lung function 2007 - VX-770 and its potential effect on restoring function of cystic fibrosis transmembrane conductance regulator (CFTR) 2012 - VX-770 (Kalydeco) is approved and the G551D mutation
Cystic fibrosis is a disease passed down through families that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body www.CFF.org Sweat test
Immunoreactive Trypsinogen Test (IRT)
Tests for trypsinogen
Chest x rays
Lung strength tests
Sputum (phlegm) cultures
Molecular genetic testing Methods of Detection Rob Skinner "@CheekyRob" "I was 16 months old. My parents kept taking me to the doctor but the doctor kept on telling them I was okay. I was finally referred when I was 1 and a half and had a severe chest infection. They put it down to asthma until they tested my genes. I failed the sweat test 3 times." "They do help the symptoms but there is only one treatment I take that fixes CF and not the symptoms. It's called Kalydeco and it try's to restore the faulty gene. I have lV antibiotics a lot which helps to cut back the chest infections I have :-)" Oral Pancreatic Enzymes 70,000 patients around the world.