Alpha-1 antitrypsin deficiency.
journal contributionposted on 2022-03-25, 10:14 authored by Emer Kelly, Catherine GreeneCatherine Greene, Tomas CarrollTomas Carroll, Noel G McElvaneyNoel G McElvaney, Shane J. O'Neill
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.
CommentsThis article is also available at http://www.sciencedirect.com
Published CitationKelly E, Greene CM, Carroll T, McElvaney NG. O'Neill SJ. Alpha-1 antitrypsin deficiency. Respiratory Medicine. 2010;104(6):763-72.
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