CF Flashcards
CF inheritance
autosomal recessive
1: 3200 whites
1: 25 are carriers!
CF is a form of..
bronchiolitis (inflamm. process of bronchioles) (
gene involved in CF
CFTR gene
how many mutations involved in CFTR gene
move than 1000, 230 known to be clin. relevant
mutation that causes 60% of CF
D F508
CF is caused by..
abnormal chloride channel in membrane (CFTR- cystic fibrosis transmembrane conductance regulator)
altered CFTR results in alt. transport Cls and therefore H2O flux across…
apical surface of epithelial cells
the inadeq. hydration of thracheobronchial epi in the resp. tract impairs the..
mucociliary function
this produces an abnormal amount of mucous–>obstructs glands and ducts–>tissue damage
exocrine gland
what else increases sputum viscosity besides mucous?
high conc. of EC DNA in airway secretions from chronic inflamm. and autolysis of neutrophils
CF is characterized by aggressive ??
neutrophilic inflammatory response
neutrophilic inflammatory response accompanied by release of these which cause ??
proteases and oxidants
cause remodeling and broncheictasis
pulmonary secretions obstruct..
small and medium sized airways
complex bac flora in CF
staph aureus, H. flu, pseudomonas
early colonization of ??? creates environment for ??? by same genetic strain
pseudomonas
lifelong pulmonary infection
??? can also adopt a ??? which worsens pt prognosis
pseudomonas
mucoid phenotype
late infection seen with
indicate better or worse outcome?
Burkholderia cepacia
worse
CF: inc. risk of nonpulm. manifests
GIT malignancies osteopenia arthropathies pancreatitis infertility
pancreatitis in CF
tissue destruction–>fibrotic scarring, cyst prolif., loss of acinar tissue, ablation of norm. pancr. architecture
like in lung, this can occur in the pancreas from ???
long term can lead to ??
obstruction of ducts
from tenacious exocrine secretions
chronic malabsorption, poor growth, fat soluble vit. insuff, loss of pancr. islet cell mass, CF-rel. DM
CF can cause infertility due to
congenital bilat. absence of vas deferens w. azoospermia (have functioning spermatogenesis, can’t move?)
- secretory obstruction of vas
- females: repro tract secretions
CF s/s
chronic lung disease/bronchiectasis
malnourished
infertile
manifests. of CLD/bronch
cough/sputum, dec. exercise tolerance
+/- hemoptysis
+/-chronic sinusitis (nasal sec, polyps)
digital clubbing/inc. AP chest diameter
why malnourished in CF?
steatorrhea (fat in poop from chronic panc.), diarrhea, abd. pain
biliary cirrhosis and gallstones (blocked intrahep. bile ducts–>multilob cirrhosis)
lab findings CF:
ABG
hypoxia, chronic compensated resp. acidosis (advanced cases)
lab findings CF:
PFTs
mixed obstructive and restrictive pattern
air trapping ( high RV: TLC)
red. FVC and TLC
red. pulmonary diffusing capacity (DLCO)
CF CXR
(early) hyperinflation
(prog) peribronch. cuffing, bronchiectasis, mucous plugging, blebs in apices
+/- inc. interstitial markings, sm. rounded peripheral opacities, focal atelectasis
CT: more or less specific for bronchiectasis ID?
much more - shows mucous impaction
also shows cystic disease
large cysts predisposed for pneumothoracies
CF dx
clin symps, fam hx, + newborn screening–>sweat electrolyte measurement (2x, 2 diff days)
sweat electrolytes followed by..
pilocarpine
levels of Cl- elevated above ?? in CF
> 60
sweat chloride test
highly specific (good at ruling in + case), but does not exclude dx–>do genotypic typing
CFTR genotyping analyzes ?? genetic defects
20-80, can do complete DFTR seq. for complicated cases
other CF dx tests
semen analysis
assessment of pancreatic function
CF tx focus on
clearance and reduction of airway secretions rev. of bronchoconstriction tx of resp inf pancr. enzyme replacement nutritional and psychosoc. support
how to clear lower airway secretions?
postural drainage
chest percussion/vibration
positive expiratory pressure/ flutter breathing device (acapella valve)
CF pts should also receive
ppx pneumococcal vaccines and annual influenza vaccinations
other way to clear lower airway secretions: ??? which cleaves the ??? in sputum causing viscosity
assoc. with dec. risk of ?? and dec. need for ??
inhaled recombinant hum. DNase
cleaves EC DNA
resp. exacerbations
abx
other lower airway clearance tx
inhale hypertonic saline 2x/day
short-term abx (test sputum)
CF have higher incidence of MAI..
recommend..
atypical mycobacteria colonization (MTB!)
yearly screening for AFB
if positive for ???
this is demonstrated to reduce exacerbations
pseudomonas
long-term abx (duration based on prescence in sputum)
-azithromycin, inhal. tobramycin, aztreonam, colistin, levaquin
these reverse CF bronchoconstriction if ???
inhal. bronchodilaters
if demonstrate improvement after bronchodil. on PFTs
if persistent asthma/ABP mycosis, consider
inhal. corticosteroids
this is an oral med for ??? mutation
it potentiates ??? and results in these improvements
ivacaftor
G551D mutation
potentiates CFTR channel (inc. time open)
improves lung function, dec. pulm. exacerb, dec. sweat Cl-
the only definitive CF tx
complications: req..
survival rate..
lung transplantation
needs double lung or heart-lung transplant
only few centers offer
3 year survival rt is 55%
CF prognosis: longevity inc. or dec?
median survival age?
increasing (good!)
36 years
death in CF pts typ occurs from
pneumonia pneumothorax hemoptysis term. chronic resp. failure cor pulmonale
