Alpha-1 antitrypsin deficiency with severe pulmonary emphysema.
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.
Saito
Akira
A
Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo, Tokyo.
Takizawa
Hajime
H
Sato
Makoto
M
Suzuki
Kenji
K
Miyata
Tadayuki
T
Tazawa
Tatsuyuki
T
Nukiwa
Toshihiro
T
Morita
Yutaka
Y
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*