CF

Question 1

CF inheritance

Answer 1

autosomal recessive

1: 3200 whites
1: 25 are carriers!

Question 2

CF is a form of..

Answer 2

bronchiolitis (inflamm. process of bronchioles) (

Question 3

gene involved in CF

Answer 3

CFTR gene

Question 4

how many mutations involved in CFTR gene

Answer 4

move than 1000, 230 known to be clin. relevant

Question 5

mutation that causes 60% of CF

Answer 5

D F508

Question 6

CF is caused by..

Answer 6

abnormal chloride channel in membrane (CFTR- cystic fibrosis transmembrane conductance regulator)

Question 7

altered CFTR results in alt. transport Cls and therefore H2O flux across…

Answer 7

apical surface of epithelial cells

Question 8

the inadeq. hydration of thracheobronchial epi in the resp. tract impairs the..

Answer 8

mucociliary function

Question 9

this produces an abnormal amount of mucous–>obstructs glands and ducts–>tissue damage

Answer 9

exocrine gland

Question 10

what else increases sputum viscosity besides mucous?

Answer 10

high conc. of EC DNA in airway secretions from chronic inflamm. and autolysis of neutrophils

Question 11

CF is characterized by aggressive ??

Answer 11

neutrophilic inflammatory response

Question 12

neutrophilic inflammatory response accompanied by release of these which cause ??

Answer 12

proteases and oxidants

cause remodeling and broncheictasis

Question 13

pulmonary secretions obstruct..

Answer 13

small and medium sized airways

Question 14

complex bac flora in CF

Answer 14

staph aureus, H. flu, pseudomonas

Question 15

early colonization of ??? creates environment for ??? by same genetic strain

Answer 15

pseudomonas

lifelong pulmonary infection

Question 16

??? can also adopt a ??? which worsens pt prognosis

Answer 16

pseudomonas

mucoid phenotype

Question 17

late infection seen with

indicate better or worse outcome?

Answer 17

Burkholderia cepacia

worse

Question 18

CF: inc. risk of nonpulm. manifests

Answer 18

GIT malignancies
osteopenia
arthropathies
pancreatitis
infertility

Question 19

pancreatitis in CF

Answer 19

tissue destruction–>fibrotic scarring, cyst prolif., loss of acinar tissue, ablation of norm. pancr. architecture

Question 20

like in lung, this can occur in the pancreas from ???

long term can lead to ??

Answer 20

obstruction of ducts
from tenacious exocrine secretions
chronic malabsorption, poor growth, fat soluble vit. insuff, loss of pancr. islet cell mass, CF-rel. DM

Question 21

CF can cause infertility due to

Answer 21

congenital bilat. absence of vas deferens w. azoospermia (have functioning spermatogenesis, can’t move?)

• secretory obstruction of vas
• females: repro tract secretions

Question 22

CF s/s

Answer 22

chronic lung disease/bronchiectasis
malnourished
infertile

Question 23

manifests. of CLD/bronch

Answer 23

cough/sputum, dec. exercise tolerance
+/- hemoptysis
+/-chronic sinusitis (nasal sec, polyps)
digital clubbing/inc. AP chest diameter

Question 24

why malnourished in CF?

Answer 24

steatorrhea (fat in poop from chronic panc.), diarrhea, abd. pain
biliary cirrhosis and gallstones (blocked intrahep. bile ducts–>multilob cirrhosis)

Question 25

lab findings CF: | ABG

Answer 25

hypoxia, chronic compensated resp. acidosis (advanced cases)

Question 26

lab findings CF: | PFTs

Answer 26

mixed obstructive and restrictive pattern air trapping ( high RV: TLC) red. FVC and TLC red. pulmonary diffusing capacity (DLCO)

Question 27

CF CXR

Answer 27

(early) hyperinflation (prog) peribronch. cuffing, bronchiectasis, mucous plugging, blebs in apices +/- inc. interstitial markings, sm. rounded peripheral opacities, focal atelectasis

Question 28

CT: more or less specific for bronchiectasis ID?

Answer 28

much more - shows mucous impaction also shows cystic disease large cysts predisposed for pneumothoracies

Question 29

CF dx

Answer 29

clin symps, fam hx, + newborn screening-->sweat electrolyte measurement (2x, 2 diff days)

Question 30

sweat electrolytes followed by..

Answer 30

pilocarpine

Question 31

levels of Cl- elevated above ?? in CF

Answer 31

>60

Question 32

sweat chloride test

Answer 32

highly specific (good at ruling in + case), but does not exclude dx-->do genotypic typing

Question 33

CFTR genotyping analyzes ?? genetic defects

Answer 33

20-80, can do complete DFTR seq. for complicated cases

Question 34

other CF dx tests

Answer 34

semen analysis | assessment of pancreatic function

Question 35

CF tx focus on

Answer 35

``` clearance and reduction of airway secretions rev. of bronchoconstriction tx of resp inf pancr. enzyme replacement nutritional and psychosoc. support ```

Question 36

how to clear lower airway secretions?

Answer 36

postural drainage chest percussion/vibration positive expiratory pressure/ flutter breathing device (acapella valve)

Question 37

CF pts should also receive

Answer 37

ppx pneumococcal vaccines and annual influenza vaccinations

Question 38

other way to clear lower airway secretions: ??? which cleaves the ??? in sputum causing viscosity assoc. with dec. risk of ?? and dec. need for ??

Answer 38

inhaled recombinant hum. DNase cleaves EC DNA resp. exacerbations abx

Question 39

other lower airway clearance tx

Answer 39

inhale hypertonic saline 2x/day | short-term abx (test sputum)

Question 40

CF have higher incidence of MAI.. | recommend..

Answer 40

atypical mycobacteria colonization (MTB!) | yearly screening for AFB

Question 41

if positive for ??? | this is demonstrated to reduce exacerbations

Answer 41

pseudomonas long-term abx (duration based on prescence in sputum) -azithromycin, inhal. tobramycin, aztreonam, colistin, levaquin

Question 42

these reverse CF bronchoconstriction if ???

Answer 42

inhal. bronchodilaters | if demonstrate improvement after bronchodil. on PFTs

Question 43

if persistent asthma/ABP mycosis, consider

Answer 43

inhal. corticosteroids

Question 44

this is an oral med for ??? mutation | it potentiates ??? and results in these improvements

Answer 44

ivacaftor G551D mutation potentiates CFTR channel (inc. time open) improves lung function, dec. pulm. exacerb, dec. sweat Cl-

Question 45

the only definitive CF tx complications: req.. survival rate..

Answer 45

lung transplantation needs double lung or heart-lung transplant only few centers offer 3 year survival rt is 55%

Question 46

CF prognosis: longevity inc. or dec? | median survival age?

Answer 46

increasing (good!) | 36 years

Question 47

death in CF pts typ occurs from

Answer 47

``` pneumonia pneumothorax hemoptysis term. chronic resp. failure cor pulmonale ```