[Alpha-1 antitrypsin deficiency. A diagnostic approach and case report].
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.
Mazzoleni
E
E
Day-Hospital di Pediatria, USSL 35, Ospedale Civile di Palazzolo s/o, (Bresica).
Munafò
G
G
Pelizzari
E
E
D000293:Adolescent; D000483:Alleles; D001706:Biopsy; D006801:Humans; D007150:Immunohistochemistry; D008099:Liver / Q000737:chemistry* / Q000601:surgery; D008107:Liver Diseases / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis*; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin
Deficit di alpha 1-antitripsina. Approccio diagnostico--caso clinico.