[From gene disease; alpha1-antitrypsine deficiency].
Alpha-1-antitrypsin (alpha 1-AT) deficiency is an autosomal, recessive hereditary disorder that is associated with the development of pulmonary emphysema and liver disease. The most common mutant leading to the deficiency is the Z mutant. This results in alpha 1-AT that forms polymers which lead to accumulation in the liver and decreased secretion. Emphysema is thought to occur due to insufficient protection of the lung tissue from the proteolytic activity of neutrophil-derived elastase, as a result of insufficient local alpha 1-AT levels.
Hiemstra
P S
PS
Leids Universitair Medisch Centrum, afd. Longziekten, Postbus 9600, 2300 RC Leiden. p.s.hiemstra@lumc.nl
Stolk
J
J
D006801:Humans; D019272:Leukocyte Elastase / Q000378:metabolism; D008107:Liver Diseases / Q000209:etiology / Q000235:genetics; D011656:Pulmonary Emphysema / Q000209:etiology / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics / Q000378:metabolism*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000235:genetics*
D000515:alpha 1-Antitrypsin; D019272:Leukocyte Elastase