Alpha 1 Anti-trypsin Deficiency Flashcards
1
Q
This is a genetic condition with mutations in the ____ genes.
A
A1AT
2
Q
what is responsible for the variable phenotype
A
the gene is present in multiple sites
3
Q
where does this deficiency often cause problems in the body?2
A
- the lungs and the liver
4
Q
what does the deficiency do in the lungs?
A
lung A1AT protects against tissue damage from neutrophil elastase - a process which is also induced by cigarette smoking - and causes emphysema
5
Q
what does the gene do in the liver?
A
it is a protein which controls inflammatory cascade
6
Q
so what happens to the liver if the function is lost?
A
get cirrhosis and hepatocellular cancer
7
Q
how does it present ? 3
A
- Dyspnoea from emphysema
- Cirrhosis
- Cholestatic jaundice
