CF, vasculitis, bronchiectasis

Question 1

inheritance + mutation CF

Answer 1

recessive // CFT gene –> defective cAMP Cl channel // delta F508 chromosome 7

Question 2

features CF

Answer 2

neonates: meconoim ileus // chest infections // malapsorption + steatorrheoa // failure to thrive // short, delayed puberty // diabetes // rectal prolapse // nasal polys

Question 3

diagnosis CF

Answer 3

sweat test = Cl >60

Question 4

false positive CF result

Answer 4

malnutrition // adrenal insufficiency // glycogen storage disease // nephrogenic diabetes insipidus // hypothyroid or hypoPTH // G6PD

Question 5

common cause false negative CF test

Answer 5

skin oedema (hypoalbumin from pancreas)

Question 6

mx CF

Answer 6

2x daily chest physio // high calorie // vitamins // pancreatic enzymes // lung transplant

Question 7

what infections are CF patients at risk of

Answer 7

Staph // pseudomoas // burkholderia // aspergillus

Question 8

what can be used to treat CF patients with homozygous delta F508

Answer 8

Lumacaftor/Ivacafto

Question 9

what is Bronchiectasis

Answer 9

permanent dilation secondary to infection or inflammation

Question 10

causes Bronchiectasis

Answer 10

post infective (TB, measles, pertussis, pneumonia) // CG // cancer // immune deficiency // aspergillosis // kartageners

Question 11

features Bronchiectasis

Answer 11

persisitent productive cough // SOB // haemoptysis // chest crackles or wheeze // clubbing

Question 12

what type of disease is Kartagener’s

Answer 12

primary ciliary dyskinesia

Question 13

pathology Kartagener’s

Answer 13

dystein arm defect –> immotile cilia

Question 14

symptoms Kartagener’s

Answer 14

dextrocardia // bronchiectasis // sinusitis // subfertile

Question 15

mx Bronchiectasis

Answer 15

physical training + postural drainage // abx for exacerbations // maybe inhaler // immunosations //surgery

Question 16

infections common in Bronchiectasis

Answer 16

H influe // pseudomonas // klebsiella // strep pneumo

Question 17

features GPA

Answer 17

upper resp infections // epistaxis // sinisitis // SOB // haemoptysis // glomerulonephritis // rash // saddle nose

Question 18

CXR + biopsy GPA

Answer 18

CSR = cavitating lesions // biopsy = epithelial crescents in bowmans

Question 19

antibodies GPA

Answer 19

GPA = P53 + cANCA

Question 20

symptoms EGPA

Answer 20

asthma + SOB // blood eisinophelia // sinusitis // mononeuritis multiplex // (NO renal)

Question 21

what can precipitate EGPA

Answer 21

LTRA

Question 22

antibodies EGPA

Answer 22

MPO + pANCA

Question 23

features MPA

Answer 23

renal impairment // fever // SOB, cough, haemoptysis // rash // mononeuritis multiplex

Question 24

antibodies MPA

Answer 24

pANCA + MPO

Question 25

pANCA assoc conditions

Answer 25

UC, PSC