[Alpha-1 antitrypsin deficiency. A diagnostic approach and case report]

Minerva Pediatr. 1995 Jan-Feb;47(1-2):27-31.
[Article in Italian]

Abstract

Subjects with alpha 1-antitrypsin deficiency, Pizz, are often subject to hepatopathies in infancy and pneumopathies in adulthood. The authors make a number of genetic and clinical observations together with a laboratory diagnosis of alpha 1-antitrypsin and describe an asymptomatic clinical case in which the diagnosis of alpha 1-antitrypsin in a PiZZ phenotype was made following the initial and occasional finding of altered transaminase and alpha 1-globulin values.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Alleles
  • Biopsy
  • Humans
  • Immunohistochemistry
  • Liver / chemistry*
  • Liver / surgery
  • Liver Diseases / diagnosis*
  • Liver Diseases / surgery
  • Male
  • Phenotype
  • alpha 1-Antitrypsin / analysis*
  • alpha 1-Antitrypsin Deficiency*

Substances

  • alpha 1-Antitrypsin