cystic fibrosis Flashcards
What kind of inheritance
Autosomal recessive
What is average survival
36 years old
Is it a multi system disorder
Yes
What gene is it located on
Chromosome 7
What does the mutation cause
Alterations in CFTR protein
What is the CFTR protein
Chloride channel
What mutation is it
F508del
What is first drug available
Ivafactor
When is ivafactor given for what mutation
G551D
What does CFTR dysfunction do to the lungs
- dehydrated airway surface liquid
- mucus stasis
- airway inflammation
- recurrent infection
What can it lead to
Bronchiectasis
Is it a multi system disease
Yes
Can it cause cirrhosis
Yes
What respiratory symptoms occur
- recurrent respiratory infection
- chronic cough
- daily sputum
- breathless
- nasal polyps
- haemoptysis
- pneumothorax
- cor pulmonale
- recurrent sinusitis
What are GI complications
- failure to thrive in infancy
- intestinal obstructive syndrome
- steatorrhoea
- liver disease and cirrhosis
- increased risk of GI malignancy
When are most CF diagnoses made
At newborn screening
What does the test involve
Measuring immunoreactive trypsinogen
neonatal heel prick test
What other investigations can be done
- sweat test
- genetic test (confirmatory)
How often should patients be seen
Every 3 months
What is the long term anti-inflammatory treatment
Long term azithromycin
What is a great threat to patients
Spread of respiratory infections
What infection is common
Pseudomonas aureginosa
What should respiratory failure be treated with
Oxygen and non-invasive ventilation
What is used to maintain BMI
Overnight gastric feeding
What has to be screened for annually
Related diabetes
What drug is a CFTR corrector
Lumacaftor
What is lumafactor used in combination with
Ivafactor
what is there an absence of in males
vas deferens
new born screening
dried heel prick test
NOT DIAGNOSTIC !
best diagnostic indicator
sweat test
what are the 2 mutations
delF508
G551D
