B4-076 Cystic Fibrosis Flashcards
CF gene is on chromosome
7
passive conduit for chloride and bicarbonate transport via ATP gated channel
CFTR
loss of CTFR results in
abnormal regulation of airway surface liquid
most common mutation
F508del
F508del causes protein […] before it can make it to the apical membrane
misfolding
if two mutations are detected on CFTR panel
refer to accredited CF center immediately
if one mutation is detected on CFTR panel
determine sweat chloride at an accredited CF center
clinical symptoms of CF in infants
3
- failure to thrive
- pulmonary symptoms
- meconium ileus
evidence of CFTR dysfunction
3
- elevated IRT
- sweat chloride
- mutation analysis
CF inheritance pattern
autosomal recessive
dx of pancreatic insufficiency is confirmed via
fecal elastase
pancreatic insufficiency is caused by
- thick fluid from defective CFTR blocks pancreatic duct
- reduced secretion of amylase, lipase, and phopholipases
pancreatic insufficiency treatment
- PERT
- fat soluble vitamin supplements
chronic daily cough and sputum production
bronchiectasis
the airway diameter should be […] times the adjacent vessel diameter to indicate bronchiectasis
1.5
nebulized antibiotics targeting pseudomonas
tobramycin
aztreonam
at age 10, screening for […] is recommended for CF patients
diabetes
potentiator CFTR modulation
potentiates CTFR already at apical plasma membrane
corrector CTFR modulator
correct CTFR folding so CTFR traffics normally to apical surface
why is the median survival rate of CF increasing?
modulators
defective CFTR function results in
viscous exocrine fluid
pancreatic insufficiency is diagnosed by low levels of
fecal elastase
microbes, their genes, and their interactions
microbiome
form of medicine that uses an individual’s unique clinical and genetic information to prevent, diagonse, and treat disease
personalized medicine
how does abnormal CFTR function cause CF?
- failure of CTFR transport causes depletion of airway surface fluid layer
- causes impaired cilia beating due to viscous fluid
- sets stage for bacterial infection
how does dornase alfa improve lung function?
cleaving DNA, reducing mucous viscosity
F508del has what impact on the CTFR gene?
causes protein misfolding, protein is degraded before reaching the apical surface
newborn CF screening tests for elevated levels of which pancreatic enzyme?
trypsin
what is the carrier incidence of CF?
1 in 30
what is the disease inheritance of CF?
caucasians
1 in 2,500
