Alpha-1 antitrypsin deficiency

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

doi:10.1016/j.rmed.2010.01.016

Alpha-1 antitrypsin deficiency

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

Authors

Emer Kelly¹, Catherine M Greene, Tomas P Carroll, Noel G McElvaney, Shane J O'Neill

Affiliation

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

PMID: 20303723
DOI: 10.1016/j.rmed.2010.01.016

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.

Publication types

Review

MeSH terms

Genetic Testing
Genotype
Humans
Lung Diseases / diagnosis*
Lung Diseases / genetics
Phenotype
Prevalence
Prognosis
Risk Factors
alpha 1-Antitrypsin Deficiency / complications
alpha 1-Antitrypsin Deficiency / diagnosis*
alpha 1-Antitrypsin Deficiency / genetics