Alpha-1 antitrypsin deficiency

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

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Publication date

June 2010

DOI

10.1016/j.rmed.2010.01.016

Publisher

Elsevier Ltd.

Abstract

SummaryObjectiveTo 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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Alpha-1 antitrypsin deficiency

Abstract

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Alpha-1 antitrypsin deficiency

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