α-1 抗胰蛋白酶缺乏症。
Alpha-1 antitrypsin deficiency.
机构信息
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland.
出版信息
Respir Med. 2010 Jun;104(6):763-72. doi: 10.1016/j.rmed.2010.01.016. Epub 2010 Mar 20.
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.
目的
综述α-1 抗胰蛋白酶（AAT）缺乏症的相关内容。
方法
叙述性文献综述。
结果
目前对该疾病的研究较多，许多问题已得到解答，但仍有疑问待解决。
讨论与结论
AAT 缺乏症是一种常染色体共显性遗传性疾病，主要影响肺部和肝脏。本文对其临床表现、流行程度、遗传学、分子病理生理学、筛查和治疗建议进行了综述。
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