Cystic Fibrosis Flashcards
how many people carry the CF gene?
1 in 25
What is the character of the genetic disease?
autosomal recessive
Where is the gene located for CF?
on the long arm of chromosome 7
How is CF caused?
Cystic fibrosis trans-membrane conductance regulator (CFTR) channel defect so lose inhibition of sodium channel so cells fill with Na+ and increase H20, leading to a dry airway
What are the results of Cystic fibrosis?
Bronchiectasis, Tenacious (adhering) sputum, biliary obstruction, Intestinal obstruction (thick mucus), pancreas (fibrosis) dysfunction, infertility for males (absence of vas deferens), psychological issues (low life expectancy), salty sweat , failure to thrive. Atopy is also seen in 88% of CF patient
If you are below the age of 40 and have bronchiectasis, what happens?
screened for CF
What is the most common genetic cause of CF?
cause is Del508 inherited by one of each parent
What other gene can cause CF if mutated? How is it helped, but why is this not feasible?
Also G551D (Celtic gene = 5% of cases)
Ivacaftor
too expensive
What gene confirms the presence of CF?
Del508
how can an exacerbation in CF be treated?
ABs , Physiotherapy, Adequate hydration, Increased Dietary input
How does Ivacaftor help?
CFTR Potentiator
Improves Chloride Flow through the CFTR
what fruit must you be wary of if you’re on Ivacaftor?
grapefruit
What is another accompanying disease of CF?
pancreatic insufficiency
For what patients is Ivacaftor available for?
patients with the G551D mutation (class III gating defect)
Name some respiratory clinical representations of CF
Recurrent respiratory infection Chronic daily cough and sputum production Breathlessness Nasal polyps Haemoptysis (sometimes massive)
