Cystic Fibrosis Flashcards
Aetiology
Mutations in the CF transmembrane conductance regulator (CFTR) gene on chromosome 7
Autosomal recessive
What does the Cl- channel defect lead to?
defective chloride secretion + increased Na absorption across airway epithelium
sticky mucus builds up
symptoms in a neonate?
failure to thrive, meconium ileum, rectal prolapse
resp symptoms in children + young adults
cough, wheeze, recurrent infections, bronchiectasis, pneumothorax, haemoptysis
GI symptoms in children + young adults
pancreatic insufficiency
Other (not GI/resp) symptoms in children + young adults
male infertility cervical mucus + polyps in females osteoporosis arthritis vasculitis CNS: neuropathy, night blindness
Signs
cyanosis
finger clubbing
bilateral coarse crackles
What criteria do you have to have for diagnosis
Clinical (1+ signs), OR genetic, AND evidence of CFTR malfunction
Whats a feacal elastase test?
simple screening test for exocrine pancreatic dysfunction
Whats so bad about pseudomonas aureginosa?
loss of flagella + biofilm formation is associated with chronicity, antibiotic resistance and epidemic strains
What would you look for in a CXR?
hyperinflation, bronchiectasis
what would you look for in a abd US?
fatty liver, cirrhosis, chronic pancreatitis
Mx (microbiological)
prevention segregating prophylaxis surveillance eradication
Mx (physical therapies)
bronchodilators, airway clearance + exercise
Mx (antinflammatories)
azithromycin, steroids
