Cystic fibrosis

Question 1

Cystic fibrosis?

Answer 1

• Cystic fibrosis (CF) is an autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas).
• It is due to a defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel

Question 2

Cystic fibrosis?

Answer 2

• In the UK 80% of CF cases are due to delta F508 on the long arm of chromosome 7.
• Cystic fibrosis affects 1 per 2500 births, and the carrier rate is c. 1 in 25

Question 3

Cystic fibrosis - Organisms which may colonise CF patients?

Answer 3

Organisms which may colonise CF patients:

• Staphylococcus aureus
• Pseudomonas aeruginosa
• Burkholderia cepacia*
• Aspergillus