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Cystic Fibrosis

Cystic Fibrosis. Fred Hill, MA, RRT. Overview. Cystic fibrosis is the most common fatal, inherited disease in the U. S. CF results from a defective autosomal recessive gene One copy of gene = carrier Codes for a protein responsible for salt transport by epithelial cells

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Cystic Fibrosis

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  1. Cystic Fibrosis Fred Hill, MA, RRT

  2. Overview • Cystic fibrosis is the most common fatal, inherited disease in the U. S. • CF results from a defective autosomal recessive gene • One copy of gene = carrier • Codes for a protein responsible for salt transport by epithelial cells • Defective gene found on chromosome #7 • Several hundred mutations possible • ~12 mutations identified, delta F508 most common (68%)

  3. Overview • Genetic defect expressed when two carriers produce progeny • 25% chance of CF • 50% chance of carriers • 25% chance of normal • Affects all racial and ethnic groups, but Caucasians of northern European ancestry most often affected

  4. Statistics of CF • Median age of survival • 1960s: ~2-4 yrs • Early 1990s: ~25 years • 2000: ~30 years • 2006: ~37 years • Incidence • 30,000 Americans, 20,000 Europeans, 3,000 Canadians • In U. S., 12,000,000 carriers • 2500 CF babies born annually in U. S.

  5. Statistics of CF • Incidence • Caucasians: 1 in 1600 births • African Americans: 1 in 13,000 births • Asian Americans: 1 in 50,000 births • 1 in 22 Caucasians are carriers

  6. Genetics and Dysfunction • Defective gene identified in 1989 • Bichemical abnormality called cystic fibrosis transmembrane regulator (CFTR) • Interferes with Cl- transport across epithelial membranes, primarily manifested in exocrine glands

  7. Repeated infections Chronic cough Recurrent bronchitis Recurrent pneumonia Bronchiectasis Pneumothorax Hemoptysis Digital clubbing Cor pulmonale Sinusitis Allergic bronchopulmonary asperigillosis Nasal polyps Respiratory Related Conditions

  8. Digital Clubbing

  9. Chest X-Ray

  10. Gastrointestinal Failure to thrive Greasy, foul-smelling stools Meconium ileus Distal intestinal obstruction Hyperglycemia Abdominal discomfort Rectal prolapse Hepatobiliary System Liver disease Prolonged neonatal Jaundice Reproductive Tract Delayed puberty Infertility Sweat Glands High salt content Other Manifestations

  11. Diagnosis • Genetic testing • Sweat test • Other • Prenatal diagnosis • Medical history • Immunoreactive trypsinogen test • Nasal potential difference measurement • Pulmonary function testing

  12. Pulmonary Infections • Staphylococcus aureus (early) • Pseudomonas aeruginosa • Burkholderia cepacia

  13. Sweat Chloride Test • Use pilocarpine and a mild electrical current to promote sweat production • Wrap with pad and plastic covering • Collect and analyze sweat for chloride • Positive test • Cl- > 60 mmoles/L in children • Cl- > 80 mmoles/L in adults

  14. Treatment • Antibiotics • Improved nutrition • Antiinflammatories • Pancreatic enzyme supplements • Bronchial hygiene • Bronchodilators & mucolytics • Physical therapy & exercise • Lung transplantation

  15. Airway Clearance Techniques • Chest physical therapy • Forced expiratory technique • Active cycle breathing • Positive expiratory pressure • Autogenic drainage • Flutter device • Vest • Exercise

  16. Mucolytics • Rh DNAse (Pulmozyme) • Acetylcysteine (Mucomyst) • Saline (nasal washes)

  17. Lung Transplantation • Limitations • High cost • Posttransplantation comlications • Oliterative bronchiolitis (30% to 50% in 3-5 years) • 1 year survival: ~72% • 3 year survival: 55% • 5 year survival: 49%

  18. Lung Transplantation • General criteria • <60-65 years old • No significant extrapulmonary complications • No steroid regimen >20 mg prednisone daily • No malignancy within past 5 years • 20% of ideal body weight • Ambulatory and capable of pretransplantation rehab program • Motivated and likely to comply with regimen • No smoking or drug/alcohol abuse • No major psychiatric problems • Adequate financial resources

  19. Lung Transplantation • Severity of disease criteria • FEV1 <30% • PaO2 < 55 mm Hg • PaCO2 > 50 mm Hg • Suffering from an unacceptable quality of life

  20. Lung Transplantation • Potentially inadvisable situations • Significant liver disease • Severe malnourishment • Extensive pleural scarring • Ventilator dependent • Colonized by Burkholderia cepacia • Aspergilloma with extensive pleural reaction • Severe osteoporosis with history of vertebral compression

  21. Thoughts on Mechanical Ventilation • Return to spontaneous ventilation is likely • Not usually for end-stage condition

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