cystic fibrosis Flashcards
is cystif fibrois autosominal dominant or recessive
recessive
what is the chance of getting cf if both parents are carriers
1/4
what ratio of hte population are cf carriers
1 in 25
what is the most common mutation in cf
f508
what percent of indivuls with cf will die as a result of that condition
90%
why does cf occur
mutation in the transmembrane conductance regulator proin cftr - this is coded on protein 7
what are the results of an abonoal protein channel in cf
clorien is trapped in teh cell, this is followed by water and sodium enter the cell.
This dehydraes the air surface liuqid and mucosu layer
this also causes a fhtick musoul surface which cause shearing
this si difficult to cough
this mucous collects bacteria reducing their ability to fight infection
what is the most common cftr proitin mutation
deltaf508
what ar the more sever classes of cftr mutation
1 -3wh
what are the less severe classes of cftr muations
4-6
what is antenatal testing
before birtha
what are the 3 ways of antenal testing
amniocentesis, choronic villous sampling , pre implantatoin genetic diagnosis
what blood test is done on babys life to test for cf
guthrie test
what test should be followed up is a guthrie test is positive
test seate to meause clorine
what is the cut off for the sweat thest
greater than 60millimoles per litere - highly likles
between 30-59millimoles per litere - possible
less than 30 millimoles per litter unlklye to be cf
what people are sweat test oftne not reliable in
audlt and infatns less than 6 months
what are some of the main systme stha re effected by cf
gi and livr - pancrati insullicanty, diabites, reflux, coeliac diase, malabosbitoin, meconium ileus
nasal - sinuses
lungs - infection and bronciapls, pneumothgoarx, infection, cor pulonaae
reporudion - infertile and delayed puberty , difficulty during pregnancy
what is meconium ileus
babys stool blocking small intestine
what is the effect of pancrease of cf
can’t produe enzyes to digast food, ths leads to abnomarl stools which are pale and offensive, float and failure to thrive in the child
what is the effect of growth on a cf indiuval
reduced growth due to cf and falling behind on hight centiles
what effects are the 1 - 3 classes on the pacnrease of cf
pancreatif insufficent
what effects are teh 4-6 classes on the pancreas
some pancreatic fucntion
what are the main tow emyes produefed by pancrease
trypsin and colistin
what is thed differn in pancreatif functionbetween classes 4, 5 and 6
incrases function