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

Abstract excerpt

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...

Topics

• Adolescent
• Alleles
• Biopsy
• Humans
• Immunohistochemistry
• Liver
• Liver Diseases
• Male
• Phenotype
• alpha 1-Antitrypsin
• alpha 1-Antitrypsin Deficiency