Document Type

Article

Publication Date

6-2010

Keywords

Genetic Testing, Genotype, Humans, Lung Diseases, Phenotype, Prevalence, Prognosis, Risk Factors, alpha 1-Antitrypsin Deficiency

Comments

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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.

Disciplines

Medicine and Health Sciences

Citation

Kelly E, Greene CM, Carroll T, McElvaney NG. O'Neill SJ. Alpha-1 antitrypsin deficiency. Respiratory Medicine. 2010;104(6):763-72.

PubMed ID

20303723

DOI Link

10.1016/j.rmed.2010.01.016