Station 1 - cystic fibrosis

Question 1

What clinical signs would indicate cystic fibrosis?

• inspection end of the bed and chest
• auscultation

Answer 1

End of bed;

• small stature, clubbing, tachypnoeic, sputum pot purulent++
• Portex reservoir (portacath) under skin or hickman line/scars
• PEG

Chest:
-Hyperinflated with reduced chest expansion

Auscultation:
-coarse creps and wheeze

Question 2

Describe the genetics of CF:

• incidence
• inheritance
• commonest and most severe mutation

Answer 2

1/2500 live births
Autosomal recessive chromosome 7q
Gene encodes CFTR (CL- channel)
Commonest and most severe mutation is the deletion 508/508 (70%)

Question 3

Describe the pathophysiology of CF:

• Bronchioles
• Pancreatic ducts
• Gut
• Seminal vesicles
• Fallopian tubes

Answer 3

• Bronchioles - bronchiectasis
• Pancreatic ducts - loss of exo and endo crine function
• Gut - distal intestinal obstruction syndrome in adults
• Seminal vesicles - male infertility
• Fallopian tubes - reduced female fertility

Question 4

What investigations can be done for CF diagnosis?

Answer 4

• Screened at birth on heel prick - low immunoreactive trypsin
• Sweat test: Na+ > 60mmol (falso pos. in hypothyroid and addisons)
• Genetic screening

Question 5

What are the treatments for CF?

Answer 5

Physiotherapy: postural drainage and active cycle breathing techniques
Prompt abx for infection
Pancrease and fat soluble vitamin supplements
Mucolytics
Immunisations
Double lung transplant (50% survival at 5 years)

Gene therapy is under development

Question 6

What is the prognosis of CF?

Answer 6

median survival is 35yrs but is rising, poor prognosis if becomes infected with burkholderia cepacia