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Respir Med. 2010 Jun;104(6):763-72. doi: 10.1016/j.rmed.2010.01.016. Epub 2010 Mar 20.

Alpha-1 antitrypsin deficiency.

Author information

1
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. emerkelly@rcsi.ie

Abstract

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.

PMID:
20303723
DOI:
10.1016/j.rmed.2010.01.016
[Indexed for MEDLINE]
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