Cystic Fibrosis DSA Flashcards
cystic fibrosis
autosomal recessive
mutation in CFTR
affects lung, pancreas, intestines, liver, sweat glands, sinuses, vas deferens
life - to 37yo
CF lungs
decreased Cl secretion
-impaired mucociliary clearing
infections, bronchiectasis, fibrosis, mucous plugging
CF sinuses
nasal and sinus polyps
CF pancreas
acinar dilation, cystic and fibrotic pancreas, exocrine insufficiency
CF intestine
meconium ileus secondary to severe obstruction
CF sweat gland
failure of Cl absorption
elevation of Cl and Na in sweat
CF vas deferens
95% men infertile
vitamin absorption in CF
can’t absorb fat soluble
-ADEK
CF MSK
decreased bone density secondary to decreased vit D absorption
CF kidney
nephrolithiasis
CF diagnosis
immunoreactive trypsinogen marker for pancreatic injury
genetic mutation analysis
confirmation - sweat test**
sweat test
confirm Dx of CF
pilocarpine iontophoresis - stimulates sweat
CXR CF
hyperinflation
CXR PFT
obstruction
progressive irreversible airflow obstruction
COPD
20-30yr after exposure
leading cause of COPD
smoking
40mL per year decrease in FEV1
also work dusts, mining, cotton mills, grain-handling
alpha1 antitrypsin
deficiency - risk fx for COPD
neutrophil elastase