CYSTIC FIBROSIS Flashcards
most common life-threatening AR disease among populations of
Northern European descent
Frequency 1:2000 to 1:3000 births
Median predicted survival 47.4 years
CF
what organs can CF affect?
upper and lower respiratory tract
pancreas and GI tract
male reproductive tract
and**
elevated chloride >60 mmol/L
mutation in this protein causes CF?
where are chloride channels found?
CFTR
Cl
located in the apical plasma membrane of acinar and epithelial cells
chloride and bicarb followed by water
regulates the amount and composition of secretions by exocrine glands
CFTR reg protein
CFTR blocks what ions?
Cl, Na, water
CFTR mutations leads too?
depleted pericilliary layer
- ciliary collapse
- failure to clear thick mucus
- block of channels of bronchi
increased mucus production
persistent cough
hyperinflation of lung fields
PFTs indicate obstruction
all characteristics of?
CF
characteristic feature of CF?
digital clubbing
propensity to respiratory infection by these organisms?
S aureus
hemophilus influenzae
pseudomonas
majority of patients develop sinus disease such as?
chronic nasal congestion
headache
sleep disturbance
diagnosis of CF after birth?
what can be used for prenatal diagnosis?
meconium ileus
resp symptoms
failure to thrive
prenatal ultrasound for meconium ileus
what percent of diagnoses among infants detected by newborn screening?
60-80%
neonatal screening picks up on what kind of proteins?
immunoreactive trypsinogen (IRT)
made in pancreas, high IRT leads to ductal blockages
what is there diagnosis criteria?
both
clinical symptoms in one organ, or positive newborn screen, family hx
and
CFTR dysfunction
therapies?
DNase, nebulizer endonuclease; liquefies sputum
other agents; inhaled hypertonic saline or mannitol; hydrates secretions
postural drainage, vest oscillation, positive expiratory pressure (PEP)
exercise
prevention of infection
bronchodilators, beta-2-agonists
azithromycin, ibuprofen, inhaled glucocorticoids, systemic glucocorticoids
