Exam 5 - Cystic Fibrosis Flashcards
Autosomal (dominant or recessive) genetic disease
recessive
CF is caused by a mutation in a gene that encodes for the _____________ protein
cystic fibrosis transmembrane conductance regulator (CFTR)
what does ENaC stand for
epithelial sodium channel
Presenting Signs and Symptoms in Neonates?
Meconium ileus (1st bowel movement gets stuck) Prolonged obstructive jaundice
Presenting Signs and Symptoms in infants and children?
Cough, recurrent URI, wheezing
Failure to thrive (gain weight)
Heat intolerance
Presenting Signs and Symptoms in adolescentes/adults?
delayed sexual maturation
nasal polyposis
most common mutation in CF?
delta F508
pathophys/results from CFTR mutations?
if CFTR is wack — chloride will not get into mucus = neither will sodium – since water follows sodium - water does not get into mucus = mucus is dehydrated and hard to get out of the body/lungs
How to do a newborn screen?
get blood from their heel – its an IRT test (immunoreactive trypsinogen)
if positive for CF — still need further workup for a diagnosis
For diagnosis fo CF:
need at least ______ sign/symptom + evidence of ______
1 sign or symptom
what are some tests for CF?
sweat chloride test – gold standard
genetic testing
pancreatic function tests
what pancreatic function tests can be done to see if CF is happening
stool fat quantitation
quantitation of trypsin activity
how does the sweat test work?
they give pilocarpine and make a part of your body sweat – and measure the chloride concentration
what is a positive sweat test?
> 60 mEq/L of chloride in the sweat
Ivacaftor/Kalydeco: what class of drug is it?
CFTR potentiator: helps “open the gate”
Ivacaftor/Kalydeco:
Counseling points?
take with fatty food to help absorption
Ivacaftor/Kalydeco:
monitoring?
LFTs Q3months x 1 yr
eye exam - baseline and yearly
Ivacaftor/Kalydeco:
drug interactions?
CYP3A substrate (dont forget grapefruit!)
Orkambi – what are the generic drugs in it?
ivacaftor/lumacaftor
Orkambi:ivacaftor/lumacaftor:
have to have what mutation?
HOMOZYGOUS delta F508
Orkambi:ivacaftor/lumacaftor:
counseling?
take with fatty foods
hormonal birth control will not be effectice
Orkambi:ivacaftor/lumacaftor:
drug interactions?
hormonal birth control is ineffective
also ivacaftor = 3A substrate
lumacaftor = 3A inducer
Orkambi:ivacaftor/lumacaftor:
monitoring?
AST/ALT/Bil q3month for 1 year and then yearly
Eye exam baseline and then yearly - peds
Kalydeco or Orkambi has higher increase in FEV1 and why ever use the other one?
Kalydeco has the MUCH better FEV1 increase
use Orkambi when HOMOZYGOUS F508 — that genotype is NOT approved in kalydeco (hence why it is used)
Symdeko – generic drugs in it?
tezacaftor/ivacaftor
Symdeko:tezacaftor/ivacaftor:
counseling?
take with fatty foods
two diff tabs taken: 1 in AM is combo pill; evening pill is just ivacaftor