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Review
. 2004 Mar;43(3):223-6.
doi: 10.2169/internalmedicine.43.223.

Alpha-1 antitrypsin deficiency with severe pulmonary emphysema

Akira Saito  1 , Hajime Takizawa, Makoto Sato, Kenji Suzuki, Tadayuki Miyata, Tatsuyuki Tazawa, Toshihiro Nukiwa, Yutaka Morita
Affiliations
Free article
Review

Alpha-1 antitrypsin deficiency with severe pulmonary emphysema

Akira Saito et al. Intern Med. 2004 Mar.
Free article

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.

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