Hereditary alpha1--antitrypsin deficiency associated with congenital extrahepatic bile duct hypoplasia.
A child, two months of age, suffering from cholestasis and biliary cirrhosis, was found to be homozygous for alpha1-antitrypsin deficiency Pi type ZZ associated with high degree extrahepatic bile duct obstruction. The clinical, protein-chemical, genetic, histological and immuno-histochemical findings in the patient are reported and the relationships between these two anomalies interpreted. An interaction between the very rare defects rather than random association is suggested.
D001652:Bile Ducts / Q000002:abnormalities*; D001796:Blood Protein Disorders / Q000150:complications*; D001797:Blood Protein Electrophoresis; D002779:Cholestasis / Q000150:complications / Q000209:etiology; D000013:Congenital Abnormalities / Q000150:complications; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007120:Immunochemistry; D007223:Infant; D007813:Laparotomy; D008105:Liver Cirrhosis, Biliary / Q000150:complications / Q000209:etiology; D011480:Protease Inhibitors; D019896:alpha 1-Antitrypsin Deficiency
D011480:Protease Inhibitors