Alpha -1 - antitrypsin deficiency
Alpha-1 antitrypsin is a member of the serine protease inhibitor family of plasma proteins.
Alpha-1 antitrypsin has a wide spectrum of antiprotease activity, however, its important physiological role is the inhibition of neutrophil elastase.
Alpha-1 antitrypsin is primarily synthesised in the liver and normally constitutes about 90% of the circulating blood alpha-1 globulin.
Severe alpha-1 antitrypsin deficiency is associated with lung and liver disease.
Reference
- Strand P, McElvaney NG, Lomas DA. Alpha1-Antitrypsin Deficiency. N Engl J Med. 2020 Apr 09;382(15):1443-1455.
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