Needham, Michelle (2007)
M.D. thesis, University of Birmingham.
Alpha-1-Antitrypsin Deficiency (AATD) is a risk factor for the development of early-onset emphysema and airflow obstruction. The current work defines exacerbations, lung function and health status in these patients including sibling pairs. Exacerbations occur commonly in AATD and are associated with worse health status. Exacerbations were associated with a decline in the gas transfer of the lung over time, but show no relationship to changes in forced expiratory volume in one second (FEV1). However, despite lung function decline, patients do not show a progressive loss in health status. Index patients have worse lung function and health status and more emphysema than non-index siblings. These differences are not solely explained by smoking or ascertainment. Although FEV1 values differ between sibling pairs, gas transfer does show significant correlation. Thus disease phenotype may also be influenced by other genetic modifiers. These results provide a firm basis upon which to design, power and implement trials of interventions that may reduce exacerbations and improve health status in patients. Furthermore sibling pairs, particularly those with discordant disease or concordant parenchymal disease, are an ideal group to further investigate the contribution of other genes in the development of COPD or its phenotype in AATD patients.
This unpublished thesis/dissertation is copyright of the author and/or third parties. The intellectual property rights of the author or third parties in respect of this work are as defined by The Copyright Designs and Patents Act 1988 or as modified by any successor legislation. Any use made of information contained in this thesis/dissertation must be in accordance with that legislation and must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the permission of the copyright holder.
Repository Staff Only: item control page