[Hepatic cirrhosis and alpha 1-antitrypsin deficit: a family study]

An Med Interna. 1992 Oct;9(10):490-2.
[Article in Spanish]

Abstract

Hepatic cirrhosis secondary to deficit of alpha-1 antitrypsin is an entity rarely observed among the adult population. We describe the clinical and histological characteristics of a patient with PiZZ phenotype, affected by an hepatic cirrhosis of this etiology, as well as the analytical and phenotypical study of his close relatives, all of which presented a type-Z mutation.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Deficiency Diseases / diagnosis
  • Deficiency Diseases / genetics
  • Female
  • Humans
  • Liver Cirrhosis / etiology*
  • Liver Cirrhosis / pathology
  • Pedigree
  • Phenotype
  • alpha 1-Antitrypsin Deficiency*