1. BY: TERESA KRASZEWSKI CYSTIC FIBROSIS

2. BACKGROUND AND HISTORY Late 16th century babies who had “salty skin” when kissed were likely to die 1938 Dr. Dorothy Andersen produced first description of cystic fibrosis in medical literature 6 month life expectancy Only thought as mucus disorder 1959 sweat test Larger than just mucus disorder 1989 discovery of CFTR gene Made treatment easier Life expectancy grew

3. CAUSE AND INHERITANCE Autosomal recessive Most common in whites Defect in cysitc fibrosis transmembrane regulator (CFTR) gene on chromosome 11 Makes protein that controls movement of salt and water in cells Most common mutation F508 2/3 Bodily secretions thick/sticky Blocks tubes, ducts, passageways Life threatening 20-30 yrs Small % 40-50 yrs

5. SYMPTOMS Salty skin Clubbed fingers/toes Diabetes Respiratory: Persistent cough (phlegm) Wheezing Breathlessness Repeated lung infections Sinus infections/nasal polyps Digestive: Foul-smelling stool Poor weight gain Intestinal blockage Severe constipation Rectal prolapse (end of the large intestine protrudes outside anus)

7. DIAGNOSIS 70% diagnosed by age 2 Screening newborns required in all 50 states Blood sample from heel Checks for high levels of immunoreactive trypsinogen (released by the pancreas) Sweat chloride test Sweat-producing chemical applied skin Collected sweat tested to see if higher chloride concentration than normal DNA samples from blood/saliva Checks for defects on gene

8. DIAGNOSIS (CONTINUED) People who weren’t screened: X-rays, CT scans and MRI (show damage to lungs/intestines) Lung function tests Sputum culture (analyzed for bacteria) Blood tests (health of your pancreas/liver) Tested for diabetes regularly (ages 10+)

9. TREATMENT No cure Chest physical therapy Drugs: Antibiotics (prevent lung infections) Mucus-thinning drugs Bronchodilators (relax muscles around bronchial tubes) Oral pancreatic enzymes (help digestive tract absorb nutrients) Surgery: Nasal polyp removal Oxygen therapy (prevent high blood pressure in lungs) Endoscopy (suction mucus out of airways) Lung transplant (controversial) Feeding tube Bowel surgery

10. SUMMARY Autosomal recessive inherited disease Defect in CFTR gene Life threatening Now diagnosed by screening newborns Symptoms mostly affect respiratory and digestive systems Treatments available for symptoms but no cure

11. WORKS CITED "CYSTIC FIBROSIS." Cystic Fibrosis. N.p., n.d. Web. 1 Dec. 2013.. "Cystic Fibrosis Since 1938." (thoracic). N.p., n.d. Web. 1 Dec. 2013.. "Cystic Fibrosis Symptoms, Treatment, Life Expectancy, Genes, Testing - MedicineNet." MedicineNet. N.p., n.d. Web. 1 Dec. 2013.. "Cystic Fibrosis: Overview." Cystic Fibrosis. N.p., n.d. Web. 1 Dec. 2013.. "January/February 2014." Discover Magazine. N.p., n.d. Web. 1 Dec. 2013.. staff, Mayo. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 June 2012. Web. 1 Dec. 2013..