Alpha1-antitrypsin deficiency--a literature review and a case report of a patient with chronic obstructive airways disease and cirrhosis.
A patient who manifested both pulmonary and hepatic disease associated with alpha1-antitrypsin deficiency is described. The biological function of alpha1-antitrypsin is discussed, as well as the inheritance of deficiency states and the spectrum of disorders which may ensue. Severe deficiency of alpha1-antitrypsin has been linked with pulmonary emphysema in adult life, progressive liver disease in childhood, adult cirrhosis but rarely with both pulmonary and liver disease.
D002908:Chronic Disease; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology*; D008297:Male; D008875:Middle Aged; D011656:Pulmonary Emphysema / Q000209:etiology*; D019896:alpha 1-Antitrypsin Deficiency