CF, vasculitis, bronchiectasis Flashcards
inheritance + mutation CF
recessive // CFT gene –> defective cAMP Cl channel // delta F508 chromosome 7
features CF
neonates: meconoim ileus // chest infections // malapsorption + steatorrheoa // failure to thrive // short, delayed puberty // diabetes // rectal prolapse // nasal polys
diagnosis CF
sweat test = Cl >60
false positive CF result
malnutrition // adrenal insufficiency // glycogen storage disease // nephrogenic diabetes insipidus // hypothyroid or hypoPTH // G6PD
common cause false negative CF test
skin oedema (hypoalbumin from pancreas)
mx CF
2x daily chest physio // high calorie // vitamins // pancreatic enzymes // lung transplant
what infections are CF patients at risk of
Staph // pseudomoas // burkholderia // aspergillus
what can be used to treat CF patients with homozygous delta F508
Lumacaftor/Ivacafto
what is Bronchiectasis
permanent dilation secondary to infection or inflammation
causes Bronchiectasis
post infective (TB, measles, pertussis, pneumonia) // CG // cancer // immune deficiency // aspergillosis // kartageners
features Bronchiectasis
persisitent productive cough // SOB // haemoptysis // chest crackles or wheeze // clubbing
what type of disease is Kartagener’s
primary ciliary dyskinesia
pathology Kartagener’s
dystein arm defect –> immotile cilia
symptoms Kartagener’s
dextrocardia // bronchiectasis // sinusitis // subfertile
mx Bronchiectasis
physical training + postural drainage // abx for exacerbations // maybe inhaler // immunosations //surgery
