title: [Alpha 1-antitrypsin phenotypes and their role in medical diagnosis].
abstract: Alpha-1-antitrypsin is a glycoprotein of blood exhibiting the properties of a proteolytic enzymes inhibitor. It occurs in a number of polymorphic variants transmitted genetically, the differentiation of which enables to use electrophoretic methods. The authors surveys literature, involving also her own experience, on the diagnostic use of alpha-1-antitrypsin phenotypes. The variants related to alpha-1-AT deficiency are associated with an increased incidence of certain diseases: obstructive pulmonary disease, liver cirrhosis in children, cancer. An early establishment of alpha-1-antitrypsin phenotype may be significant for occupational prevention, furthermore, it may be helpful in the highlighting of etiology of certain liver diseases in early childhood.
authors.affiliation: Z Instytutu Medycyny Pracy im. prof. dr med. Jerzego Nofera w Lodzi.
authors.forename: B
authors.initials: B
authors.lastname: Piłacik
mesh_terms: D000328:Adult; D002648:Child; D004592:Electrophoresis, Starch Gel; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007123:Immunoelectrophoresis, Two-Dimensional; D008107:Liver Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000175:diagnosis* / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin
vernacular_title: Fenotypy alfa-1-antytrypsyny i ich rola w diagnostyce medycznej.