Alpha1-Antitrypsin Deficiency

被引：284
|
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
收藏
页码：1443 / 1455
页数：13
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