A1AT Deficiency Flashcards
1
Q
common inherited condition affecting two things?
A
lung (emphysema)
liver (cirrhosis)
2
Q
what does a1at do?
a1at protects cells from?
A
controls inflammatory cascade
neutrophil elastase (induced by smoking)
3
Q
chief genetic cause of liver disease in children?
A
yes
4
Q
Patients who manifest disease/symptomatic usually have PiZZ genotype
what features do they get?
A
o Dyspnoea from emphysema
o Cirrhosis and HCC in adults, cholestasis in children.
