Alpha-1 Antitrypsin Deficiency with Severe Pulmonary Emphysema

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  • SAITO Akira
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo
  • TAKIZAWA Hajime
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo
  • SATO Makoto
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo
  • SUZUKI Kenji
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo
  • MIYATA Tadayuki
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo
  • TAZAWA Tatsuyuki
    Department of Respiratory Oncology and Molecular Medicine, Institute of Development, Aging and Cancer, Tohoku University
  • NUKIWA Toshihiro
    Department of Respiratory Oncology and Molecular Medicine, Institute of Development, Aging and Cancer, Tohoku University
  • MORITA Yutaka
    Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo

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抄録

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 Siiyama variant by allele-specific polymerase chain reaction (PCR) analysis.

収録刊行物

  • Internal Medicine

    Internal Medicine 43 (3), 223-226, 2004

    一般社団法人 日本内科学会

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