[Alpha 1-antitrypsin deficiency, liver cirrhosis and pulmonary emphysema (author's transl)].
It is well known that incidence of chronic obstructive lung disease in adult patients with alpha 1-antitrypsin deficiency (ATD) is high. Adult carriers of this genetic trait with cirrhosis of the liver, and also with fibrosis of the liver and hepatoma, have been reported. A causal relationship between ATD and liver lesions has been suspected. In most cases liver disease has been recognized at post morten, - in a few cases, however, intra vitam, when severe symptoms of the liver disease had become apparent. The case of a 59 year-old patient is reported with PIZZ-homozygous ATD, moderate pulmonary emphysema and with marked portal fibrosis and focal transition in cirrhosis of the liver without any sequelae. The clinical course has been rather benign so far.
D004562:Electrocardiography; D006801:Humans; D010535:Laparoscopy; D008099:Liver / Q000473:pathology; D008103:Liver Cirrhosis / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000503:physiopathology*; D011877:Radionuclide Imaging; D012129:Respiratory Function Tests; D013154:Spleen / Q000000981:diagnostic imaging; D019896:alpha 1-Antitrypsin Deficiency
Alpha 1-Antitrypsinmangel mit Leberzirrhose und Lungenemphysem beim Erwachsenen.