Transcript Hemodynamic Monitoring

Cystic Fibrosis
Fred Hill, MA, RRT
Overview
• Cystic fibrosis is the most common fatal,
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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%)
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
Statistics of CF
• Median age of survival
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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.
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
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
Respiratory Related Conditions
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Repeated infections
Chronic cough
Recurrent bronchitis
Recurrent pneumonia
Bronchiectasis
Pneumothorax
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Hemoptysis
Digital clubbing
Cor pulmonale
Sinusitis
Allergic
bronchopulmonary
asperigillosis
Nasal polyps
Digital Clubbing
Chest X-Ray
Other Manifestations
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Gastrointestinal
Failure to thrive
Greasy, foul-smelling
stools
Meconium ileus
Distal intestinal
obstruction
Hyperglycemia
Abdominal discomfort
Rectal prolapse
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Hepatobiliary System
Liver disease
Prolonged neonatal
Jaundice
Reproductive Tract
Delayed puberty
Infertility
Sweat Glands
High salt content
Diagnosis
• Genetic testing
• Sweat test
• Other
– Prenatal diagnosis
– Medical history
– Immunoreactive trypsinogen test
– Nasal potential difference measurement
– Pulmonary function testing
Pulmonary Infections
• Staphylococcus aureus (early)
• Pseudomonas aeruginosa
• Burkholderia cepacia
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
Treatment
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Antibiotics
Improved nutrition
Antiinflammatories
Pancreatic enzyme supplements
Bronchial hygiene
Bronchodilators & mucolytics
Physical therapy & exercise
Lung transplantation
Airway Clearance Techniques
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Chest physical therapy
Forced expiratory technique
Active cycle breathing
Positive expiratory pressure
Autogenic drainage
Flutter device
Vest
Exercise
Mucolytics
• Rh DNAse (Pulmozyme)
• Acetylcysteine (Mucomyst)
• Saline (nasal washes)
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%
Lung Transplantation
• General criteria
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<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
Lung Transplantation
• Severity of disease criteria
– FEV1 <30%
– PaO2 < 55 mm Hg
– PaCO2 > 50 mm Hg
– Suffering from an unacceptable quality of life
Lung Transplantation
• Potentially inadvisable situations
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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
Thoughts on Mechanical Ventilation
• Return to spontaneous ventilation is likely
• Not usually for end-stage condition