Alpha-1 antitrypsin deficiency.

Authors :: Kelly E
Greene CM
Carroll TP
McElvaney NG
O'Neill SJ
Source :: Respiratory medicine [Respir Med] 2010 Jun; Vol. 104 (6), pp. 763-72. Date of Electronic Publication: 2010 Mar 20.
Publication Year :: 2010
Abstract: Objective: To review the topic of alpha-1 antitrypsin (AAT) deficiency.<br />Method: Narrative literature review.<br />Results: Much work has been carried out on this condition with many questions being answered but still further questions remain.<br />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.<br /> (Copyright 2010 Elsevier Ltd. All rights reserved.)