Alpha-1 antitrypsin deficiency

被引：70
|
作者：
Kelly, Emer [1 ]
Greene, Catherine M. [1 ]
Carroll, Tomas P. [1 ]
McElvaney, Noel G. [1 ]
O'Neill, Shane J. [1 ]
机构：
[1] Beaumont Hosp, Dept Resp Res, Royal Coll Surg Ireland, Dublin 9, Ireland
来源：
RESPIRATORY MEDICINE | 2010年 / 104卷 / 06期
关键词：
Alpha-1; antitrypsin; Alpha-1 antitryspin deficiency; Chronic obstructive pulmonary disease (COPD); SERPINA1; gene; SERPIN-PROTEINASE COMPLEX; SEVERE ALPHA(1)-ANTITRYPSIN DEFICIENCY; OBSTRUCTIVE PULMONARY-DISEASE; LOWER RESPIRATORY-TRACT; REACTIVE CENTER LOOP; PI-TYPE-Z; ENDOPLASMIC-RETICULUM; ALPHA-1-PROTEINASE INHIBITOR; ALPHA1-ANTITRYPSIN DEFICIENCY; ANTITRYPSIN DEFICIENCY;
D O I：
10.1016/j.rmed.2010.01.016
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Objective: To review the topic of alpha-1 antitrypsin (AAT) deficiency. Method: Narrative literature review. Results: Much work has been carried out on this condition with many questions being answered but still further questions remain. Discussion and conclusions. AAT deficiency is an autosomal co-dominantly inherited disease which affects the lungs and liver predominantly. The clinical manifestations, prevalence, genetics, molecular pathophysiology, screening and treatment recommendations are summarised in this review. (C) 2010 Elsevier Ltd. All rights reserved.
引用
收藏
页码：763 / 772
页数：10
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