cystic fibrosis

Question 1

cystic fibrosis

Answer 1

a progressive, genetic disease which causes persistent lung infections and limits the ability to breathe over time

Question 2

pathophysiology

Answer 2

• monogenic disease

- CFTR protein malfunction

Question 3

CFTR malfunction

Answer 3

less water outside cells, mucus dehydrates and thickens, cilia stuck, mucus remains in airways

Question 4

cystic fibrosis affects

Answer 4

airways, pancreas, male genital, intestine, liver, bone, and kidney

Question 5

CFTR mutations associated with

Answer 5

frameshift or nonsense mutations, or premature stop codon are typically associated with more severe phenotypes and clinical presentations

Question 6

presentation

Answer 6

presistant cough
SOB
malnutrition
diabetes
frequent lung infections

Question 7

prognosis

Answer 7

Average life expectancy: ~45 years
▪ Balance between ADLs and treatments
▪ Common to have anxiety and depression
▪ Minimize risk factors (e.g. smoking)

Question 8

medical management

Answer 8

• treat on individual basis
• daily management of symptoms and meds
• current research focused on CFTR modulation and gene therapies

Question 9

daily management of symptoms and meds

Answer 9

airway clearance
inhalers
pancreatic enzyme supplement
regular exercise

Question 10

special considerations/precautions

Answer 10

• cleared to exercise by health care provider
• be time sensitive
• note if they have done their therapies for the day or which they have done
• without a history of regular exercise, don’t push past light aerobic exercise

Question 11

PT interventions

Answer 11

Inhalation therapy education
• Airway clearance techniques
• Rehabilitation  post lung transplant
• Exercise assessment and training
• Depression screening
• Incontinence treatment
• Exercise 3-4x per week