アルファ1-アンチトリプシン欠乏症
James K Stoller1, Loutfi S Aboussouan
1Department of Pulmonary, Allergy, and Critical Care Medicine, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA. stollej@ccf.org
Lancet (London, England)
|June 28, 2005
まとめ
アルファ1-アンチトリプシン欠乏症 (AATD) は,肝臓および肺疾患を引き起こす遺伝疾患です. プラズマ由来療法によるAAT濃度の上昇は,AATD患者の肺機能低下を遅らせる可能性があります.
科学分野:
- 遺伝学と肺医学について
- バイオケミストリーと分子生物学
背景:
- アルファ1-アンチトリプシン欠乏症 (AATD) は,遺伝性疾患で,約2000〜5000人に1人が罹患しています.
- 臨床的表れは,肝疾患と早期発症のエムフィゼマ,主に中性粒子の弾性酵素に対する肺の保護が低下しているため.
- SERPINA 1遺伝子の一般的なZアレル変異は,AATポリマーの細胞内保持を肝細胞に引き起こすことにより,アルファ1-アンチトリプシン (AAT) の血清レベルを低下させる.
研究 の 目的:
- AATDを有する個体における血清アルファ1-アンチトリプシン濃度の増加の有効性と安全性を評価する.
- 肺機能低下およびその他の臨床結果に対するAAT増強療法の影響を評価する.
- この治療の費用対効果に関する残った不確実性を解消するために.
主な方法:
- AAT増強療法に関する既存の証拠のレビュー プーリングされたヒト血から精製されたアルファ1-アンチトリプシンを使用する.
- 治療への反応として血清および上皮膜内膜液のAAT濃度を評価した研究の分析.
- 治療を受けた患者の肺機能,感染率,生存に関するデータの評価.
主要な成果:
- AAT増強療法は,血清および上皮膜内膜液のAAT濃度を11マイクロモール/Lの保護値を超えて上昇させます.
- 治療は安全であり,肺機能の低下速度を遅らせる可能性があるという証拠があります.
- 潜在的な利点には,感染率の低下と生存率の向上が含まれていますが,費用対効果は依然として懸念されています.
結論:
- プラズマ由来のアルファ1-アンチトリプシンによる増強治療は,根本的な欠乏症に対処するAATDの特定の治療である.
- この治療法は,肺損傷を軽減し,罹患者の臨床結果を改善する有望な治療法を示しています.
- 長期的なAAT増強療法の費用対効果を明確に確立するためにさらなる研究が必要である.
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