Alpha-1 antitrypsin deficiency.

Kelly, Emer; Greene, Catherine M.; Carroll, Tomás P.; McElvaney, Noel G.; O'Neill, Shane J.

Alpha-1 antitrypsin deficiency..pdf (194.33 kB)

Alpha-1 antitrypsin deficiency.

Version 2 2022-03-25, 10:14

Version 1 2019-11-22, 16:31

journal contribution

posted on 2019-11-22, 16:31 authored 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.