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Alpha-1 antitrypsin deficiency.

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posted on 22.11.2019 by Emer Kelly, Catherine M. Greene, Tomás P. Carroll, Noel 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.

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Published Citation

Kelly E, Greene CM, Carroll T, McElvaney NG. O'Neill SJ. Alpha-1 antitrypsin deficiency. Respiratory Medicine. 2010;104(6):763-72.

Publication Date

01/06/2010

PubMed ID

20303723

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