cystic fibrosis

Question 1

is cystif fibrois autosominal dominant or recessive

Answer 1

recessive

Question 2

what is the chance of getting cf if both parents are carriers

Answer 2

1/4

Question 3

what ratio of hte population are cf carriers

Answer 3

1 in 25

Question 4

what is the most common mutation in cf

Answer 4

f508

Question 5

what percent of indivuls with cf will die as a result of that condition

Answer 5

90%

Question 6

why does cf occur

Answer 6

mutation in the transmembrane conductance regulator proin cftr - this is coded on protein 7

Question 7

what are the results of an abonoal protein channel in cf

Answer 7

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

Question 8

what is the most common cftr proitin mutation

Answer 8

deltaf508

Question 9

what ar the more sever classes of cftr mutation

Answer 9

1 -3wh

Question 10

what are the less severe classes of cftr muations

Answer 10

4-6

Question 11

what is antenatal testing

Answer 11

before birtha

Question 12

what are the 3 ways of antenal testing

Answer 12

amniocentesis, choronic villous sampling , pre implantatoin genetic diagnosis

Question 13

what blood test is done on babys life to test for cf

Answer 13

guthrie test

Question 14

what test should be followed up is a guthrie test is positive

Answer 14

test seate to meause clorine

Question 15

what is the cut off for the sweat thest

Answer 15

greater than 60millimoles per litere - highly likles
between 30-59millimoles per litere - possible
less than 30 millimoles per litter unlklye to be cf

Question 16

what people are sweat test oftne not reliable in

Answer 16

audlt and infatns less than 6 months

Question 17

what are some of the main systme stha re effected by cf

Answer 17

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

Question 18

what is meconium ileus

Answer 18

babys stool blocking small intestine

Question 19

what is the effect of pancrease of cf

Answer 19

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

Question 20

what is the effect of growth on a cf indiuval

Answer 20

reduced growth due to cf and falling behind on hight centiles

Question 21

what effects are the 1 - 3 classes on the pacnrease of cf

Answer 21

pancreatif insufficent

Question 22

what effects are teh 4-6 classes on the pancreas

Answer 22

some pancreatic fucntion

Question 23

what are the main tow emyes produefed by pancrease

Answer 23

trypsin and colistin

Question 24

what is thed differn in pancreatif functionbetween classes 4, 5 and 6

Answer 24

incrases function

Question 25

what are the common chest probems seen with cf

Answer 25

pneumonia, bronchiectasis, scarrring and abscesses

Question 26

what factors make pulmonary infection more common with cf

Answer 26

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

Question 27

effect of cf on ciliated cells

Answer 27

signficaialy redued due to fewer cells present

Question 28

what is the reguccent cycle in cf

Answer 28

reduced mucoicllary clrea, bacteria adhees , reduced endocytos of bacter colonisatoin inlamtion mucous plugging,aiway urlection and airway damage bronchiascis

Question 29

what is visble in cf chest xray

Answer 29

tramlinies, signet rings, mucous plugging, consolidation

Question 30

what are the clincila signs of cf

Answer 30

Low weight or height on growth charts Nasal polyps Finger clubbing Crackles and wheezes on auscultation Abdominal distention

Question 31

what is hte treatmet of pancreatic insuficently in cf

Answer 31

replae eymes uging creon, high callier diet, take nutritial supplements

Question 32

what is hte best way to treat mucous obsutcion and inflation in airway

Answer 32

airway clrease theray, mucolytics, bronchodialtors

Question 33

what is the best way to treat infection in cf

Answer 33

antibiotics,

Question 34

what is the bet way to reduce inflammation in cf

Answer 34

azihromycin - in low dose

Question 35

what is the treatemetn for scarring/ fibrosis/ bronchias in cf

Answer 35

supportive treatment and management of symptons

Question 36

what conditions are cf patine more liely to divelp

Answer 36

oseoprosis, diabetes, pneumothorax, haemoptysis

Question 37

what type of diabiets is seen in cf

Answer 37

type 2 where no insultin is made

Question 38

why are cf indivulas more at risk of diabeties

Answer 38

complies with diate, need high caleriy diet,

Question 39

what causes osteoprois in indivulas with cf

Answer 39

nutriens, steriods, delayed pubery, bad overal health.

Question 40

what are predicotrs of low bone density in cf

Answer 40

low fev1, frequit antibiotics, sterisio, low bmi, lowe exercis, ag,e males, diabeits, vigt d defcity, delayed puberty

Question 41

what percent of cf paties have a pneumo thorax

Answer 41

3-4%

Question 42

what percent of patiens have hamopths

Answer 42

about 60%

Question 43

what are the risk foacors for hameothysi in cf

Answer 43

severity, high no. of exacertbatuoin, funcal lung infection, liver disease, it k defficty, anticoagulantxs

Question 44

what are some soical and eduction and econokci impacts of cf

Answer 44

diffiult ot make frieins missing school talking large amounts of medications siblings increased time of work

Question 45

what are the no of drugs taht often are taken by cf indiucalt

Answer 45

oftne up to 30-40 dffernt types of drugs, with creon alson up t 30 to 40 capsules a day

Question 46

what are teh most common bacterial pathongs in childhood with cf in moreder

Answer 46

Stahpycolucal aureaus ( about 40%), pseudomonas aeruginosa (about 30%, haemophilius influeza, stenotrophomonas malophila, burkholderia crepia2

Question 47

what are the most common bacterial pathognes in adults with cf in order

Answer 47

psuedoman aerugaois ( about 80%) stpahcous aues ( about 30%) , haemophillusinfliez, burkhoder capera, stenotrophomonas maltophilia

Question 48

what is psuedomonas aeroginosa effects in cf

Answer 48

a bacteria which when coliased is very hard to eraiscae form cf patients as they are often become antibiotic resitan

Question 49

what percent of cf have pa in under 1 year over 18 year

Answer 49

under 1 - 21% over 18 - 80%

Question 50

what is burkholderia cepacia

Answer 50

a bacateria which signicaly redues life expas and decrease lung function, it is resitant to most ant bitoics

Question 51

where does burkholderia cepacia come from

Answer 51

onioin rot and other cf patients

Question 52

what is burkholderia cenocepacia genomovar III

Answer 52

a very leaf for of burholdiea for people with cf found in bathrowmma dn soil

Question 53

where is psuedomas aeroginosa foud

Answer 53

enviroment, and other cf paties

Question 54

what cf bactria is controdictory to lung transplantation

Answer 54

non tb, mycobacteria and genomovar 111

Question 55

what are some new drugs on the market for cf

Answer 55

kaftrio

Question 56

what is the criter neded for double lung traplant

Answer 56

less than 30%fev1, estimated life survial les than 2 years , rapky detteraly lung function, pneuotha or severe haemophysis

Question 57

what can be an contral indicator to double lung transplant

Answer 57

active sytemic finction, drug/ alchol addictioms , malignaicy within 5 years, other orag fialure

Question 58

what ar some contral indicators which may still allow doule lung trospa with clinical judgement

Answer 58

orther organ dysfuction, non compliance, sterioids - greater than 20mg dialiy, absencoc of recoginsed social support, osteopros, low or high bmi, surgical risks

Question 59

what is the survail for a double lung plant after 5 and 10 years with cf

Answer 59

62% and 52%

Question 60

what are addition supprot people can be on with cf,

Answer 60

oxygen, exercize and anav care plans

Question 61

what is the comon inhertied deas in n eupropes

Answer 61

cf