title: [Recent progress of pathogenesis and treatment in alpha 1-antitrypsin deficiency].
abstract: alpha 1-Antitrypsin (alpha 1-AT) deficiency, one of the most common hereditary disorders that mainly affects the lung and liver in Caucasian people, is caused by mutations of alpha 1-AT gene. Decrease of serum alpha 1-AT concentration is directly responsible for lung emphysema, replacement of plasma-derived alpha 1-AT concentrate is administered to patients of alpha 1-AT deficiency with lung emphysema, and lung transplantation is employed for end-stage lung emphysema. Augmentation therapy is not adequate for alpha 1-AT deficiency with liver disease, because liver injury is caused by accumulation of mutated alpha 1-AT protein in hepatocytes. Currently liver transplantation is the only treatment for severe liver cirrhosis. To correct the genetic defects of alpha 1-AT gene, several approaches for gene therapy are under investigation in vitro and in vivo animal models.
authors.affiliation: Health Administration Center, Saga Medical School.
authors.forename: I
authors.initials: I
authors.lastname: Ozaki
authors.forename: M A
authors.initials: MA
authors.lastname: Zern
mesh_terms: D015316:Genetic Therapy; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology / Q000628:therapy; D016031:Liver Transplantation; D016040:Lung Transplantation; D009154:Mutation; D011656:Pulmonary Emphysema / Q000209:etiology / Q000628:therapy; D000515:alpha 1-Antitrypsin / Q000008:administration & dosage / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000235:genetics / Q000628:therapy
chemical_list: D000515:alpha 1-Antitrypsin