CF Flashcards
what is seen in childhood
bronchiectasis
how many people carry the gene
1 in 25
what is the classical form of the syndrome
bronchopulmonary infection and pancreatic insufficiency, with a high sweat sodium and chloride concentration
what mutations occur
F508Del and G551D
what channel is mutated
CFTR - chloride channel
what regulates CFTR channel
cAMP
what happens to the vas deferens
fails to develop - infertile males
where is the bronchiectasis found
upper lobe
what is a screening test used
faecal elastase - assess exocrine pancreatic dysfunction
name 2 diagnostic test
sweat test and genetic testing
what is the sweat test
high sweat sodium conc
what is seen in spirometry
obstructive defect
what is a CFTR potentiator
ivacaftor - improves chloride flow
what must you not eat with Ivacaftor
grapefruit
what is exocrine failure treated with
CREON
what occurs due to endocrine failure
diabetes - managed with OGTT and CGMS
patients need insulin
microbiology in childhood
S aureus
microbiology as adult
H infleunza
and Strep pneumonia
what resistant pathogens do the bronchi become colonised with
Pseudomonas aerugionsa and Burkholderia cepacia
what do you treat pseudomonas with
ciprofloxacin
