Discovery of alpha 1-antitrypsin deficiency.
The author reviews the early history of alpha 1-antitrypsin (AAT) deficiency; the biochemical characterization of this inborn error of metabolism, its pattern of inheritance, frequency and predisposition to early, panacinar emphysema. The importance of the destructive element in emphysema and the gradual focusing on neutrophil elastase as a key enzyme in the pathogenesis of emphysema in alpha 1-antitrypsin deficiency is emphasized. The deficiency state as a prototype of an endoplasmic reticulum storage disease is discussed.
Eriksson
S
S
Department of Medicine, University of Lund, Malmö General Hospital, Sweden.
D006801:Humans; D008103:Liver Cirrhosis / Q000235:genetics; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000235:genetics*; D012307:Risk Factors; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin