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Review
. 2010 Jun;104(6):763-72.
doi: 10.1016/j.rmed.2010.01.016. Epub 2010 Mar 20.

Alpha-1 antitrypsin deficiency

Emer Kelly  1 , Catherine M Greene, Tomas P Carroll, Noel G McElvaney, Shane J O'Neill
Affiliations
Free article
Review

Alpha-1 antitrypsin deficiency

Emer Kelly et al. Respir Med. 2010 Jun.
Free article

Abstract

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.

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