cystic fibrosis Flashcards
genetic
autosomalrecessive condition 1 in 25 carry the gene gene on long arm of 7 mutations lead to abnormal production of the CFTR protein F508del G551D
what is CF
a multi-system disorder, respiratory problems are usually the most prominent, a cycle of mucus stasis, inflammation and infection leads to resp failure and death in the majority pf patients, pancreatic insufficiency
CFTR protein
expressed on the membrane of all epithelial cells and acts as the main chloride channel
ATP is needed
moves chlorine out of the cell
negative feedback to the sodium ion channel
consequences
salty sweat intestinal blockage fibrotic pancreas failure to thrive recurrent bacterial lung infections congenital bilateral absence of the vas deferens filled sinuses gallbladder and liver disease
class 1
no CFTR synthesis
die in utero
class 2
CFTR trafficking defect
severe CF, die in 30s or 40s
class 3
dysregulation of CFTR - diminished ATP binding and hydrolysis
protein looks normal but won’t open
class 4
defective chlorine conductance or channel gating
opens a small amount and lets some chloride through
class 5
reduced CFTR transciption and synthesis
less transcribed, protein is a normal shape and function
difficulties
massive treatment burden
much treatment is preventative
complications can be rapid onset
not everything is CF related so miss other illnesses
exacerbation management
physiotherapy adequate hydration increased dietary input antibiotics - frequent, high burden, always 2 OHPAT
