cystic_fibrosis_flashcards (1)
1
Q
What is cystic fibrosis (CF)?
A
An autosomal recessive disorder causing increased viscosity of secretions (e.g. lungs and pancreas).
2
Q
What causes the increased viscosity of secretions in CF?
A
A defect in the cystic fibrosis transmembrane conductance regulator gene (CFTR), which codes a cAMP-regulated chloride channel.
3
Q
What is the genetic defect in CF?
A
Delta F508 mutation on the long arm of chromosome 7.
4
Q
What percentage of CF cases in the UK are due to delta F508 mutation?
A
80%.
5
Q
What is the carrier rate of CF in the UK?
A
Approximately 1 in 25.
6
Q
Which organisms may colonize CF patients?
A
Staphylococcus aureus, Pseudomonas aeruginosa, Burkholderia cepacia, Aspergillus.
7
Q
What was Burkholderia cepacia previously known as?
A
Pseudomonas cepacia.
