Cystic Fibrosis

1. Cystic Fibrosis Raychele W. Khadeija D. Sasha L.

2. What is it? • Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that: • clogs the lungs and leads to life-threatening lung infections • obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

4. Causes / preventions • In cystic fibrosis, a defect (mutation) in a gene changes a protein that regulates the movement of salt in and out of cells. • The result is thick, sticky mucus in the respiratory, digestive and reproductive systems, as well as increased salt in sweat. • Many different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition. • The affected inherited gene is recessive gene. • Since Cystic Fibrosis is inherited you cant prevent but you can test to see if you’re a carrier by looking at your genetic material

6. Symptoms • very salty-tasting skin or sweat • persistent coughing or at times with phlegm; • wheezing or shortness of breath • frequent greasy, bulky stools or difficulty in bowel movements • frequent lung and sinus infections or pneumonia • persistent wheezing, or cough with thick mucus • bulky, light-colored, foul-smelling bowel movements or diarrhea (because food isn't being digested properly) • failure to gain weightand poor height growth • nasal polyps (small growths of tissue inside the nose) • fatigue

7. Treatments / cures • There is no cure for cystic Fibrosis • TOBI, an aerosolized antibiotic used to treat lung infections • Pulmozyme, a mucus-thinning drug shown to reduce the number of lung infections and improve lung function • Bronchodilator medicines to help open the airways • Hypertonic saline to help draw more water into the airways to thin mucus • Other treatments for CF • Azithromycin, an antibiotic that fights bacteria in the lungs • Anti-inflammatory medicines such as ibuprofen to help reduce swelling in the airways • postural drainage and percussion

8. Diagnosis • CF is diagnosed through the sweat test, which measures the amount of salt in the sweat. A high salt level indicates that a person has CF. • CF also can be identified before birth through prenatal screening and after birth through newborn screening.

9. Statistics • About 1,000 new cases of cystic fibrosis are diagnosed each year. • More than 70% of patients are diagnosed by age two. • More than 45% of the CF patient population is age 18 or older. • The predicted median age of survival for a person with CF is in the early 40s.

10. Resources • http://kidshealth.org/teen/diseases_conditions/digestive/cystic_fibrosis.html# • http://www.cff.org/aboutcf/ • http://www.cff.org/aboutcf/faqs/ • http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ • http://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/basics/causes/con-20013731 • Understanding Cystic Fibrosis By Karen Hopkin