Alpha1-antitrypsin deficiency with diffuse bronchiectasis and cirrhosis of the liver.
The medical literature has emphasized repeatedly the association of alpha1-antitrypsin deficiency with panacinar emphysema and cirrhosis of the liver. Previous reports have linked bronchiectasis with alpha1-antitrypsin deficiency. The present case confirms this association and adds the presence of an hepatic abnormality characteristics of alpha1-antitrypsin deficiency to complete the syndrome. The patient's phenotype was found to be MDuarteZ. It has been suggested that patients with diffuse bronchiectasis should be screened for alpha1-antitrypsin deficiency. We would add that a complete assessment of hepatic function, including liver biopsy, should be carried out in those individuals with reduced levels of alpha1-antitrypsin.
D000293:Adolescent; D000328:Adult; D001987:Bronchiectasis / Q000150:complications* / Q000000981:diagnostic imaging / Q000201:enzymology; D002648:Child; D006801:Humans; D007223:Infant; D008103:Liver Cirrhosis / Q000150:complications* / Q000201:enzymology / Q000473:pathology; D008111:Liver Function Tests; D008875:Middle Aged; D010641:Phenotype; D011859:Radiography; D012129:Respiratory Function Tests; D019896:alpha 1-Antitrypsin Deficiency