Is PiSS Alpha-1 Antitrypsin Deficiency Associated with DiseaseReport as inadecuate




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Pulmonary MedicineVolume 2010 2010, Article ID 570679, 6 pages

Research Article

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, 812 CSB, MSC 630, Charleston, SC 29425-6300, USA

Division of Pulmonary and Critical Care Medicine, College of Medicine, University of Florida, Gainesville, FL 32610-0225, USA

Received 18 December 2009; Revised 22 March 2010; Accepted 8 May 2010

Academic Editor: Maurizio Luisetti

Copyright © 2010 Dawn McGee et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background. Alpha-1 antitrypsin deficiency AAT is an inherited condition that predisposes to lung and-or liver disease. Objective. The current study examined the clinical features of the PiSS genotype. Methods. Nineteen study participants PiSS and 29 matched control participants PiMM were telephone interviewed using a standardized questionnaire. Demographic features, cigarette smoking, vocation, medication history, and clinical diagnoses were compared. Statistical analysis was performed. Finally, a comprehensive literature review was performed by two investigators. Results. 12-19 63.2% study participants reported the presence of lung and-or liver disease compared to 12-29 41.4% control participants. There trended toward having a higher frequency of medication allergies in the study population 42.11% versus 20.69%. Conclusions. The PiSS genotype was associated with a similar incidence of obstructive lung disease to controls. Selective bias intrinsic in testing for AAT deficiency and the rarity of the PiSS genotype will make future study of this association dependent on population-based tests.





Author: Dawn McGee, Laura Schwarz, Rebecca McClure, Lauren Peterka, Farshid Rouhani, Mark Brantly, and Charlie Strange

Source: https://www.hindawi.com/



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