Cystic fibrosis

Question 1

Cystic fibrosis definition

Answer 1

• life-shortening genetic disease
• caused by CFTR gene mutation
• commonly causes pancreatic dysfunction and lung disease

Question 2

Cystic fibrosis pathophysiology

Answer 2

• mutations in CFTR lead to abnormal salt transportation, causing thick secretions
• pancreas - exocrine glands blocked, causing eventual autodestruction
• respiratory - mucus retention, increased infection risk, eventual lung tissue destruction

Question 3

Cystic fibrosis signs and symptoms

Answer 3

neonatal period (20%):
- meconium ileus
- prolonged jaundice
- recurrent chest infxns (40%)
- malabsorption (30%): steatorrhea, failure to thrive
others:
- liver failure
- short stature
- delayed puberty
- nasal polyps
- diabetes mellitus

Question 4

Cystic fibrosis diagnosis

Answer 4

• sweat test - positive if sweat chloride ≥60 mmol/L
• CFTR genetic testing

Question 5

Cystic fibrosis management

Answer 5

• regular chest physio and postural drainage
• high calorie diet, increase fat intake
• social distancing to reduce infection
• vitamin supplementation
• pancreatic enzyme replacement
• consider lung transplant