Cystic fibrosis, lung cancer & sleep apnea Flashcards
what is cystic fibrosis
an inherited defect in cell chloride channels
what gene is cystic fibrosis caused by
CFTR gene
what chromosome is the CFTR gene present on
7
what type of gene is CFTR gene
recessive
what does cystic fibrosis result in
It produces an excess sticky mucous with the lungs and pancreas mainly being affected
what is used to diagnose cystic fibrosis
perinatal testing
sweat tests
describe perinatal testing for CF
done at birth
blood taken from heel
screened for CF
what is the sweat test
for CF
those with CF have greater salt content
what are the main symptoms of cystic fibrosis
troublesome cough repeated chest infection prolonged diarrhea poor weight gain liver dysfunction in some prone to osteoporosis diabetes symptoms reduced fertility
why do those with CF have a troublesome cough
they struggle to clear the mucus
what do the repeated chest infections of those with CF present as
it is unusual organisms
weak pathogens that would not normally cause problems e.g pseudomonas and stapholocci
why is there prolonged diarrhea
due to an inability to digest fats
pancreas cannot secrete its enzymes
why are CF patients more prone to osteoporosis
they are not absorbing nutrients
why do CF patients have diabetes symptoms
o Islets making insulin are gradually destroyed, becomes diabetic over time
what is the treatment for CF
physiotherapy medication exercise transplantation gene therapy
what is the first port of call for Tx of CF
physiotherapy
what is physiotherapy used for in CF patients
o Used to help remove the mucous secretions from the lungs
o Performed at home by parents
how much Physio is needed for CF patients
10-60 mins a day