[Neonatal intrahepatic cholestasis and alpha-1-antitrypsin deficiency (author's transl)].
A case of alpha-1-antitrypsin deficiency in an 11 month-old Pi ZZ infant is reported. The patient exhibited intrahepatic cholestasis in the first months of life, with jaundice and hepatomegaly. Liver biopsy confirmed the diagnosis and showed the presence of hepatic fibrosis. Pi phenotypes, serum levels of alpha-1-antitrypsin, and symptoms in the family of the patient are reported. Clinical, biochemical and pathologic findings in liver disease in alpha-1-antitrypsin deficiency are discussed.
D001706:Biopsy; D002780:Cholestasis, Intrahepatic / Q000209:etiology*; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency
Colostasis intrahepática neonatal por déficit de alfa-1-antitripsina.