title: Alpha-1 antitrypsin deficiency with severe pulmonary emphysema.
abstract: Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysema that is genetically determined as S(iiyama) variant by allele-specific polymerase chain reaction (PCR) analysis.
authors.affiliation: Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo, Tokyo.
authors.forename: Akira
authors.initials: A
authors.lastname: Saito
authors.forename: Hajime
authors.initials: H
authors.lastname: Takizawa
authors.forename: Makoto
authors.initials: M
authors.lastname: Sato
authors.forename: Kenji
authors.initials: K
authors.lastname: Suzuki
authors.forename: Tadayuki
authors.initials: T
authors.lastname: Miyata
authors.forename: Tatsuyuki
authors.initials: T
authors.lastname: Tazawa
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Nukiwa
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Morita
mesh_terms: D000483:Alleles; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011656:Pulmonary Emphysema / Q000150:complications*; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications* / Q000235:genetics*