Paediatric Cystic Fibrosis Flashcards
What kind of inheritance is CF?
Autosomal recessive
What is the gene prevalence of CF?
1 in 25
What is the disease prevalence of CF?
1 in 2500
What gene is responsible for the mutation causing CF?
CFTR: Cystic Fibrosis Transmembrane conductance Regulator
What is the most common mutation in Northern Europeans?
phe508del
What are the different classes of CFTR mutations?
- Normal
- Class 1: no synthesis
- Class 2: no maturation
- Class 3: blocked regulation
- Class4: decreased conductance
- Class 5: decreased abundance
What is the function of CFTR?
- Active transport channel for chloride
- Regulates liquid volume on epithelial surface
- Reduced chloride efflux
- Increased sodium influx via ENaC
What is abnormal ciliary function?
Collapse of cilia with excessive inflammation
How is neonatal screening carried out?
-Newborn bloodspot on day 5 called Guthrie test
Initial screen for immuno-reactive trypsinogen
-If positive then mutation analysis is performed
If a newborn screens positive then what are they referred for?
Sweat test
What correlations do studies show between screening and CF prognosis?
- Probably reduced infant mortality
- Better lung function
- Benefit in nutrition
How is CF managed?
- Specialist multi-disciplinary team
- Shared care with local clinics
- Surveillance in primary care
- Early treatment of infection
What are the 2 cardinal features of CF?
- Pancreatic insufficiency
- Recurrent bronchopulmonary infection
What can pancreatic insufficiency result in?
Abnormal stools -Pale or orange -Very offensive -Greasy or oily Failure to thrive -May thrive quite well on breast milk -May have defiences of fat soluble vitamins
How is pancreatic insufficiency treated?
- Enteric coated enzyme pellets
- High energy diet
- Fat-soluble vitamin and mineral supplements
- H2 antagonist or proton pump inhibitors
