Alpha-1 antitrypsin deficiency.
Name:
Publisher version
Affiliation
Department of Respiratory Research, Royal College of Surgeons in Ireland, Beaumont Hospital, Education Research Building, Beaumont Road, Dublin, Ireland. emerkelly@rcsi.ieIssue Date
2010-06MeSH
Genetic TestingGenotype
Humans
Lung Diseases
Phenotype
Prevalence
Prognosis
Risk Factors
alpha 1-Antitrypsin Deficiency
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Alpha-1 antitrypsin deficiency. 2010, 104 (6):763-72 Respir MedJournal
Respiratory medicineDOI
10.1016/j.rmed.2010.01.016PubMed ID
20303723Abstract
To review the topic of alpha-1 antitrypsin (AAT) deficiency.Narrative literature review.
Much work has been carried out on this condition with many questions being answered but still further questions remain.
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.