RESUMEN

A study of 27 relatives of a child with fatal hepatic cirrhosis due to homozygous Z variant alpha-1-antitrypsin deficiency revealed 15 members with heterozygous MZ phenotypes. Levels of circulating alpha-1-antitrypsin and trypsin-inhibiting capacity were shown to be unreliable in identifying the heterozygous state, Pi typing being necessary for definitive diagnosis. The morphologic evolution of the hepatic changes in this condition have been studied, and the importance of the PAS stain in identification of the characteristic cytoplasmic bodies is stressed.

Asunto(s)

Cirrosis Hepática/genética , Inhibidores de Proteasas , Deficiencia de alfa 1-Antitripsina , Autopsia , Biopsia con Aguja , Niño , Femenino , Genes Recesivos , Homocigoto , Humanos , Inmunoelectroforesis , Hígado/patología , Hígado/ultraestructura , Cirrosis Hepática/mortalidad , Cirrosis Hepática/patología , Microscopía Electrónica , Índice Mitótico