Cystic Fibrosis Flashcards
1
Q
What sort of genetic disorder is CF?
A
Autosomal recessive disorder.
2
Q
What is the pathophysiology of CF?
A
There is a defect in the CF transmembrane conductance regulator gene (CFTR) which codes a cAMP-regulated chloride channels.
80% of cases are due to delta F508 on the long arm of chromosome 7.
And thus there is increased saltiness/viscosity of secretions (lungs, pancreas, skin)
3
Q
What are some organisms which commonly colonise CF patients?
A
- Staphylococcus aureus
- Pseudomonas aeruginosa
- Burkholderia cepacia
- Aspergillus
4
Q
What are some main features of CF?
A
- Neonatal period (20%): meconium ileus
- Prolonged jaundice (rare)
- Recurrent chest infections (40%)
- Malabsorption (30%): Steatorrhoea, failure to thrive.
- Other features (10%): Liver disease
5
Q
What are some other features of CF?
A
- Short stature
- Diabetes Mellitus
- Delayed puberty
- Rectal prolapse (due to bulky stools)
- Nasal polyps
- Male infertility & female subfertility.
6
Q
Describe the management process of CF?
A
- MDT approach
- Regular (>BD) chest PT and postural drainage. (Patients taught to do this)
- High calorie diet
- Vitamin supplementation
- Pancreatic enzyme supplements taken with every meal.
- Heart and lung transplant.
7
Q
What is the carrier rate of CF?
A
1 in 25
8
Q
Per birth, what is the rate of CF?
A
1 in 2,500
