27- CF 1 Flashcards
What sort of defect is cf
Recessive autosomal defect in CFTR gene expressed on many organs
What are the stats in uk
10k people have it and 1 in 2500 babies
What does multisystem disease mean
Affects the lungs, liver, bones, gut, heart and pancreas / other areas due to CFTR expression
What sort of things does it cause in the lungs
Bronchitis, bronchiectasis, pneumonia and resp faulrure
What sits on top of Eli cells in normal airway
Airway surface liquid made from 2 layers and top layer is more mucusy vs ciliary layer on lower side
What does CFTR normally do affecting asl
Allows hydration through secretion of Cl and HCO drawing water out into airway for better mucus clearance
What are the 3 hallmarks of Cf
Infection,mucus and inflammation via inflam cells
Which article discusses effects of CFTR on airway surface and neutrophils
Mall 2014
Which channel does CFTR regulate so not too much na hyper absorption occurs and allows hydration
Enac
Does mucus building through dehydration always need to cause infection to cause inflammation
No. Some irritants can cause pro inflam cytokines and chemokine release without infectikn
What sorts of things can NE cause
Bronchiectasis, mucus hypersexretion, airway inflammation and cell damage
How does ne also cause more dehydration so more mucus build up
Activates the enac channel and because CFTR not functioning can’t regulate this = dehydration eg phe508 mutation
Reduced ph occurs with less HCO release. What does this impact on
Amp, lysozymes and lactoferrins action to remove pathogens
Which 3 things can help secretion clearance to manage cf
PEP (positive exp pressure) Physiotherapy
Exercise
Mucolytics / other mucoactives
How does pep physiotherapy work
Keepsairways open and better ventilation through a machine so more clearance
How would you treat the inflammation
Azithromycin or steroids
Why was cf first seen as a disease of the gut
CFTR on pancreas allows fat absorption so this dysfunction reduces fat soluble vitamin absorption eg vit a, e,d,k
What sorts of signs are fat malabsorption
Greasy stools, weight loss
What obstruction of the bowel is a sign of cf in babies or adults
Meconium ileus (in distal ileum)
In adults it’s distal bowel obstructions
Which article discusses the vitamin deficiency
Rayner 1992
What does vit k deficiency cause in cf patients
Haemorrhagic disease (important for clotting)
What does d deficiency cause
Osteomalacia, sometimes rickets and bone deformation (important for bone development)
What is E linked with to do with neurological problems
Loss of position and vibration sense in lower limbs, also muscle weakness and tremors
How does vitamin E link to inflammation in airway in cf
If present it usually blocks free radical caused inflammation eg from neutrophils
