Respiratory - Genetic and Autoimmune Flashcards
1
Q
how is alpha 1 antitrypsin deficiency inherited?
A
autosomal codominant
2
Q
features of A1AT?
A
cough
SOB
wheeze
emphysema
hepatitis
cholestasis
jaundice
cirrhosis
3
Q
what does A1AT do?
A
glycoprotein made by the liver
controls inflammatory cascades
4
Q
treatment for A1AT?
A
smoking cessation alcohol avoidance COPD treatment (as emphysema)
5
Q
what occurs in sarcoidosis?
A
lymphocytes and macrophages accumulate and form non caseating granulomas
6
Q
features of sarcoidosis?
A
cough SOB fatigue athralgia lymphadenopathy red eye erythema nodosum
7
Q
investigations for sarcoidosis?
A
CXR (pulmonary fibrosis) CT (ground glass) FBC (increased ESR) serum ace (high) Ca (high) ECG
8
Q
treatment of sarcoidosis?
A
steroids if organs affected
paracetamol
AZA/MTX
monitor CXR
9
Q
how is CF inherited?
A
autosomal recessive
10
Q
pathology of CF?
A
abnormal salt transport due to CFTR abnormalities
thick secretions
exocrine ducts blocked
11
Q
features of CF?
A
wet cough
infections
absent vas def
malabsorption
