alpha1- antitrypsin deficiency Flashcards
1
Q
associated with
A
- liver disease
- pulmonary emphysema (smokers)
2
Q
what is A1AT
A
glycoprotein
3
Q
is it a genetic disorder
A
yes
4
Q
what is A1AT role
A
inhibit proteolytic enyzme., neutrophil elastase
5
Q
what gene is it located on
A
chromosome 14
6
Q
what do patients develop
A
cirrhosis
7
Q
investigation
A
serum alpha 1 antitrypsin
- low
8
Q
treatment
A
- liver transplant
- stop smoking
