Genetic Testing, Genotype, Humans, Lung Diseases, Phenotype, Prevalence, Prognosis, Risk Factors, alpha 1-Antitrypsin Deficiency
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.
Medicine and Health Sciences
Kelly E, Greene CM, Carroll T, McElvaney NG. O'Neill SJ. Alpha-1 antitrypsin deficiency. Respiratory Medicine. 2010;104(6):763-72.