Cystic Fibrosis

Question 1

What is CF

Answer 1

autosomal recessive genetic disorder affecting EXOCRINE glands

Question 2

What is the primary cause of death in CF patients

Answer 2

end stage lung disease

Question 3

What is the pathophysiology of CF

Answer 3

1. Defect CFTR gene=abnormal chloride transport channels
2. Decreased Cl in epithelial cells of mucus membranes
3. Cl- not secreted=Na stays in cell, water follows= decreased water in respiratory and pancreatic secretions
4. Thick, viscous mucus secretions (pulm, panc, GI)= PLUG

Question 4

Why do chronic lung infections occur in CF

Answer 4

secretions are not mobile and can’t be expectorated, so bacteria colonize

Question 5

How do CF patients present

Answer 5

chronic hacking cough
*Meiconium ileus (obstruction, sticky), protein and fat malabsorption
*Male infertility (vas deferens abn.), undescended testes
Chronic sinus infections

Question 6

What are respiratory manifestations of CF

Answer 6

*Nasal polyps

Cough, sputum, DOE, hemoptysis, rhinosinusitis

Question 7

What are GI manifestations in CF

Answer 7

Diarrhea, abd pain, low BMI, billiard cirrhosis/stones

Question 8

What criteria need to be met to diagnose CF

Answer 8

1. Clinical Sx (CF related) in at least 1 organ system
2. Evidence of CFTR abnormality in at least one (Sweat chloride >60 two times, genotyping showing mutation in 2 allele from each parent, nasal mucosa test)

Question 9

What are indications for a sweat test

Answer 9

Sibling has confirmed CF
Infant testing positive for CF test
infant with suggestive Sx (meconium ileum)
Suggestive Sx (chronic sinusitis, male infertility, chronic respiratory infections)

Question 10

How can you manage CF

Answer 10

*Vaccine (flu/pneumo)
Bronchodilators
Anti-inflammatories (Macrolides, IBU, corticosteroid)
Agent to promote clearance (inhale hypertonic saline)
Chest physiotherapy (exercise, postural drainage)
Nutrition support
Transplant