title: [Substitution therapy in alpha 1-protease inhibitor deficiency (alpha 1-antitrypsin deficiency)].
abstract: Deficiency of alpha 1-protease inhibitor is a dominant autosomally inherited error of metabolism leading to destruction of alveolar septa by proteolytic enzymes mainly released by neutrophils often before the fifth decade. Diagnosis and determination of phenotype are achieved by serologic tests. Affected individuals have to be informed about the accelerated evolution of the lung disease by smoking and the possibility of therapy by substitution. The latter aims at maintenance of anti-proteolytic serum levels compatible with arrest of emphysema by weekly to monthly injections of human alpha 1-protease inhibitor as we illustrate with a case-report. In the future antiprotease produced by gene-technology, the application via aerosols or an infection of endothelial cells with viruses transferring genes for antiprotease may be possible.
authors.affiliation: Zürcher Höhenklinik Wald, Faltigberg.
authors.forename: U
authors.initials: U
authors.lastname: Stössel
authors.forename: O
authors.initials: O
authors.lastname: Brändli
mesh_terms: D005260:Female; D006801:Humans; D007262:Infusions, Intravenous; D008661:Metabolism, Inborn Errors / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000008:administration & dosage / Q000627:therapeutic use*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin
vernacular_title: Substitutionstherapie bei Alpha 1-Proteaseinhibitor-Mangel ("Alpha 1-Antitrypsin-Mangel").