1. Cystic Fibrosis By Kristy Sandman

2. Physiology Genes found in nucleus of each cell Genes made up of nucleotides Genes can be rearranged or mutated Genes serve 2 functions 1. Inheritance 2. Proteins

3. Proteins Made in cell Transported to golgi network Sorted and delivered Several functions

4. Pathophysiology Defective gene on chromosome 7 CFTR -- Regulate chloride & sodium channels -- Produces thick, sticky Mucus -- Conditions favorable for bacteria & infections

6. Pathophysiology Secretion of digestive enzymes impaired -- leads to malnutrition Mucus builds up in respiratory passageways

7. Pathophysiology Bacteria Staphylococcus Aureus Haemophilus Influenzae Pseudomonas Aeruginosa Burkholderia Cepacia

8. Inheritance 1 / 25 Americans of European descent are carriers 2 normal genes = normal 1 normal, 1 mutated = carrier 2 mutated = cystic fibrosis R R r r

9. Diagnoses 1. Sweat Test Use of iontophoresis to stimulate sweating Sweat absorbed by filter paper & paper is then analyzed 2. Genetic Test Genes are studied in a sample of blood or tissue

10. Signs & Symptoms GI system Babies born w/ meconium ileus Mucus obstructs pancreatic ducts Malnutrition Diabetes Gall stones in liver

11. Signs & Symptoms Respiratory System Nose, throat, trachea, bronchii, bronchiles, alveoli Swelling of sinuses Hair like projections unable to move mucus Build up of mucus = infection Chronic bacteria

12. Persons tire easy & experience shortness of breath Lung volume & resiratory effort tested regularly Sputum tested for bacteria Sweat Glands Sweat much saltier than normal Problem in heat & during exercise Compensation by adding salt to food

13. Fertility 98% men infertile Women fertile Puberty delayed Nutrition High Calorie diets Vitamin supplementation Monitored Ht., wt., growth Tube feeding

17. Pharmacology 1. Acetyloysteine (Mucomyst) Dissolve mucin Loosen secretions 2. Aerosols Used w/ antibiotics, antivirals, proteins Meds in a fine mist Target action site Low cost, good adherance by users

18. 3. Antibiotics Control infections 4. Bronchodilators Open airways 5. Corticosteroids Reduce inflammation in lungs 6. Ibuprofen Reduces inflammation in lungs 7. Immune Enhancement drugs Prevent secondary infections

19. 8. Morphine & Fentanyl Analgesics 9. Pancreatic Enzymes Help digest food, taken w/ every meal 10.Aminoglycoside Antibiotic Aids cells in making normal proteins 11. Cyclosporine Prevents organ rejection 12. DNASE Breaks down DNA in bacteria in mucus

20. 13. Leuprolide Acetate Prevents infertility 14. Tobramycin for Inhalation (TOBI) Inhaled antibiotic Treats Pseudomonas Aeruginosa

21. Chest Physio-Therapy Beneficial in moving secretions Improves respiratory sufficiency Allows more expansion of lungs Strengthens respiratory muscles Several contraindications

23. 1. Flutter Breathe into a tube w/ a ball in it 2. Coughing Helps break up secretions 3. Deep Breathing Expands the lungs for better distribution of air

24. 4. Percussion Striking the chest to break up secretions 5. Postural Drainage Use of gravity to drain secretions Head / chest down position for up to 15 minutes 6. Turning Turning from side to side allows for more expansion of the lungs

25. 7. Vibration Helps break up lung secretions Can be done manually or mechanically Repeated several times per day

26. Gene Therapy Defective genes replaced w/ normal genes CFTR gene coded in 1989, genetic test developed shortly after that Researchers use a virus to deliver the corrected gene to the cell Obstacle is finding receptor for the virus

27. Lung Transplants Aggressive therapy used for severe pulmonary illness First performed in 1983 1,300-1,400 performed each year, 65% in the U.S. List of 4,000 on the waiting list for a lung Avg. wait is 2 years Very expensive - $120,000 for surgery $30,000/yr for meds & follow up care

28. CF, 2 nd largest group for lung transplants 2 nd most common cause of death b/c of rejection 50% of adults, 80% of children live longer than 2 yrs after transplant Candidates chosen based on prognostic factors -- FEV best predictor for survival -- FEV <30% best candidates b/c 2 yr mortality rate <50%

29. Other Factors -- age -- sex -- weight -- pancreatic function -- diabetes -- infection -- bacteria

30. Exercising Exercising is very beneficial, even in severe lung disease Program should be individualized Benefits Increased Endurance Increased lung function Decreased Dyspnea Improved Quality of life

31. Types Any exercise that involves major muscle groups, esp. arm & shoulder muscles Biking & walking are indicated Frequency Minimum of 3-5 days week Time 2- 15 min. sessions or 1- 30 min session, depending on symptoms

32. Intensity Work up to 20-30 min May need to take frequent breaks Breathing Pursed lip breathing Supplemental oxygen