cystic fibrosis Flashcards
1
Q
what is cystic fibrosis
A
Autosomal recessive mutation on chromosome 7 - codes for the CFTR protein
2
Q
risk factors for cystic fibrosis
A
- family history
- caucasian
3
Q
pathophysiology of cystic fibrosis
A
- CFTR gene normally secretes Cl- and Na+ into ductal secretions which makes them thin and watery.
- Due to a defect in this gene the ductal secretions are thicker with Na+ and Cl- retention.
- This leads to impaired mucociliary clearance = stagnation of mucus = increased infection risk, difficulty breathing.
4
Q
respiratory symptoms of cystic fibrosis
A
- recurrent infections
- bronchiectasis
5
Q
neonate symptoms of cystic fibrosis
A
- jaundice,
- failure to thrive
- meconium ileus (bowel obstruction)
6
Q
GI symptoms of cystic fibrosis
A
- bowel obstruction
- steatorrhea
- thick secretins
- pancreatic insufficiency
7
Q
other symptoms of cystic fibrosis
A
in males - atrophy of vas deferens and epididymis - causes infertility
8
Q
how to diagnose cystic fibrosis in a new born
A
heel prick test
9
Q
how to diagnose cystic fibrosis in adults
A
- sweat test - high chloride
- decreased fecal elastase
- genetic testing
10
Q
treatment of cystic fibrosis
A
MDT approach:
- Chest physio and postural drainage;
- High calorie, high fat diet;
- Minimise contact with other infective patients;
- Pancreatic supplementation
11
Q
what drugs can you use to treat cystic fibrosis
A
- antimucolytics
- bronchodilator
- prancreatic enzyme replacements
- fat soluble vitamin supplements
12
Q
complications of cystic fibrosis
A
- Bronchiectasis
- infections
13
Q
A
