Neonatal intrahepatic cholestasis and alpha-1-antitrypsin deficiency
Carnicer, J.; Martín, J.; Ballesta, A.; Amat, L.
Anales Espanoles de Pediatria 14(3): 189-194
1981
ISSN/ISBN: 0302-4342 PMID: 6973942 Document Number: 170751
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.