Alpha-1 antitrypsin deficiency
- Kelly, Emer
- Greene, Catherine M.
- Carroll, Tomas P.
- McElvaney, Noel G.
- O’Neill, Shane J.
DOIAbstract
AbstractObjectiveTo review the topic of alpha-1 antitrypsin (AAT) deficiency.MethodNarrative literature review.ResultsMuch work has been carried out on this condition with many questions being answered but still further questions remain.Discussion and conclusionsAAT 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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