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
what are the common chest probems seen with cf
pneumonia, bronchiectasis, scarrring and abscesses
what factors make pulmonary infection more common with cf
abnormal electorlite transport across cell memar
dehyratono fo airawysure increase amount of moucs
reduced mucos clerase
shearing of cell surface by mucous
reduced bacteria killing ability
effect of cf on ciliated cells
signficaialy redued due to fewer cells present
what is the reguccent cycle in cf
reduced mucoicllary clrea, bacteria adhees , reduced endocytos of bacter
colonisatoin
inlamtion mucous plugging,aiway urlection and airway damage
bronchiascis
what is visble in cf chest xray
tramlinies, signet rings, mucous plugging, consolidation
what are the clincila signs of cf
Low weight or height on growth charts
Nasal polyps
Finger clubbing
Crackles and wheezes on auscultation
Abdominal distention
what is hte treatmet of pancreatic insuficently in cf
replae eymes uging creon, high callier diet, take nutritial supplements
what is hte best way to treat mucous obsutcion and inflation in airway
airway clrease theray, mucolytics, bronchodialtors
what is the best way to treat infection in cf
antibiotics,
what is the bet way to reduce inflammation in cf
azihromycin - in low dose
what is the treatemetn for scarring/ fibrosis/ bronchias in cf
supportive treatment and management of symptons
what conditions are cf patine more liely to divelp
oseoprosis, diabetes, pneumothorax, haemoptysis
what type of diabiets is seen in cf
type 2 where no insultin is made
why are cf indivulas more at risk of diabeties
complies with diate, need high caleriy diet,
what causes osteoprois in indivulas with cf
nutriens, steriods, delayed pubery, bad overal health.
what are predicotrs of low bone density in cf
low fev1, frequit antibiotics, sterisio, low bmi, lowe exercis, ag,e males, diabeits, vigt d defcity, delayed puberty
what percent of cf paties have a pneumo thorax
3-4%
what percent of patiens have hamopths
about 60%
what are the risk foacors for hameothysi in cf
severity, high no. of exacertbatuoin, funcal lung infection, liver disease, it k defficty, anticoagulantxs
what are some soical and eduction and econokci impacts of cf
diffiult ot make frieins
missing school
talking large amounts of medications
siblings
increased time of work
what are the no of drugs taht often are taken by cf indiucalt
oftne up to 30-40 dffernt types of drugs, with creon alson up t 30 to 40 capsules a day
what are teh most common bacterial pathongs in childhood with cf in moreder
Stahpycolucal aureaus ( about 40%), pseudomonas aeruginosa (about 30%, haemophilius influeza, stenotrophomonas malophila, burkholderia crepia2
what are the most common bacterial pathognes in adults with cf in order
psuedoman aerugaois ( about 80%) stpahcous aues ( about 30%) , haemophillusinfliez, burkhoder capera, stenotrophomonas maltophilia
what is psuedomonas aeroginosa effects in cf
a bacteria which when coliased is very hard to eraiscae form cf patients as they are often become antibiotic resitan
what percent of cf have pa in
under 1 year
over 18 year
under 1 - 21%
over 18 - 80%
what is burkholderia cepacia
a bacateria which signicaly redues life expas and decrease lung function, it is resitant to most ant bitoics
where does burkholderia cepacia come from
onioin rot and other cf patients
what is burkholderia cenocepacia genomovar III
a very leaf for of burholdiea for people with cf found in bathrowmma dn soil
where is psuedomas aeroginosa foud
enviroment, and other cf paties
what cf bactria is controdictory to lung transplantation
non tb, mycobacteria and genomovar 111
what are some new drugs on the market for cf
kaftrio
what is the criter neded for double lung traplant
less than 30%fev1, estimated life survial les than 2 years , rapky detteraly lung function, pneuotha or severe haemophysis
what can be an contral indicator to double lung transplant
active sytemic finction, drug/ alchol addictioms , malignaicy within 5 years, other orag fialure
what ar some contral indicators which may still allow doule lung trospa with clinical judgement
orther organ dysfuction, non compliance, sterioids - greater than 20mg dialiy, absencoc of recoginsed social support, osteopros, low or high bmi, surgical risks
what is the survail for a double lung plant after 5 and 10 years with cf
62% and 52%
what are addition supprot people can be on with cf,
oxygen, exercize and anav care plans
what is the comon inhertied deas in n eupropes
cf
