cystic fibrosis Flashcards
1
Q
What kind of inheritance
A
Autosomal recessive
2
Q
What is average survival
A
36 years old
3
Q
Is it a multi system disorder
A
Yes
4
Q
What gene is it located on
A
Chromosome 7
5
Q
What does the mutation cause
A
Alterations in CFTR protein
6
Q
What is the CFTR protein
A
Chloride channel
7
Q
What mutation is it
A
F508del
8
Q
What is first drug available
A
Ivafactor
9
Q
When is ivafactor given for what mutation
A
G551D
10
Q
What does CFTR dysfunction do to the lungs
A
- dehydrated airway surface liquid
- mucus stasis
- airway inflammation
- recurrent infection
11
Q
What can it lead to
A
Bronchiectasis
12
Q
Is it a multi system disease
A
Yes
13
Q
Can it cause cirrhosis
A
Yes
14
Q
What respiratory symptoms occur
A
- recurrent respiratory infection
- chronic cough
- daily sputum
- breathless
- nasal polyps
- haemoptysis
- pneumothorax
- cor pulmonale
- recurrent sinusitis
15
Q
What are GI complications
A
- failure to thrive in infancy
- intestinal obstructive syndrome
- steatorrhoea
- liver disease and cirrhosis
- increased risk of GI malignancy
