[Alpha 1-antitrypsin deficiency and atresia of the bile ducts].
A newly-born male affected by extrahepatic biliary atresia with an alpha-1 antitrypsin pi ZZ deficiency is presented. Parents, Pi MZ, showing no signs of affection either in liver or lungs. His two brothers and one sister died at nine months, 7 years and 22 months respectively. Two brothers showed cirrhosis of the liver, the sister showed extrahepatic biliary atresia, and in all three patients there was an alpha-1 antitrypsin deficiency. Authors want to emphasize the presence of extra-hepatic biliary atresia in both brother and sister who had also an alpha-1 antitrypsin deficiency because this is an infrequent association which requires different treatment.
D001656:Biliary Atresia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
Déficit de alfa-1 antitripsina y atresia de vías biliares.