Alpha1-Antitrypsin Deficiency

被引：293

作者：

Strnad, Pavel ^{[1
]}

McElvaney, Noel G. ^{[2
]}

Lomas, David A. ^{[3
]}

机构：

[1] Univ Hosp RWTH Rheinisch Westfalisch Tech Hsch Aa, Dept Internal Med 3, Aachen, Germany

[2] Royal Coll Surgeons Ireland, Beaumont Hosp, Irish Ctr Genet Lung Dis, Dublin, Ireland

[3] UCL, Rayne Inst, Div Med, UCL Resp, London, England

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2020年 / 382卷 / 15期

关键词：

OBSTRUCTIVE PULMONARY-DISEASE; SEVERE ALPHA-1-ANTITRYPSIN DEFICIENCY; LIVER-DISEASE; ENDOPLASMIC-RETICULUM; ALPHA1-ANTITRYPSIN DEFICIENCY; NEUTROPHIL ELASTASE; LUNG-FUNCTION; POLYMERIZATION; POLYMERS; EMPHYSEMA;

D O I：

10.1056/NEJMra1910234

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

AAT is a protease inhibitor targeting neutrophil elastase. It prevents the destruction of tissue, particularly in the lung, from elastase activity. AAT deficiency is a genetic disorder characterized by pulmonary disease, especially emphysema and bronchiectasis, and hepatic disease.

引用

页码：1443 / 1455

页数：13

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