Characterization of three new SERPINA1 variants PiQ0 Heidelberg II , PiQ0 Heidelberg III and PiQ0 Heidelberg IV in patients with severe alpha-1 antitrypsin deficiency.
| Autor: | Höger P; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Veith M; University Medical Center Giessen and Marburg, Philipps-University, Department of Medicine, Pulmonary and Critical Care Medicine, Member of the German Center for Lung Research (DZL), Marburg, Germany., Greulich T; University Medical Center Giessen and Marburg, Philipps-University, Department of Medicine, Pulmonary and Critical Care Medicine, Member of the German Center for Lung Research (DZL), Marburg, Germany., Limen E; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Brock J; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Schlamp K; Department of Diagnostic and Interventional Radiology with Nuclear Medicine, Thoraxklinik at University Hospital Heidelberg, Heidelberg, Germany., Buschulte K; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Presotto MA; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Schäfer JC; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Herth F; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany., Trudzinski FC; Department of Pneumology and Critical Care Medicine, Thoraxklinik, University of Heidelberg, Translational Lung Research Center (TLRC-H), German Center for Lung Research (DZL), Heidelberg, Germany. |
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| Jazyk: | angličtina |
| Zdroj: | Respiratory medicine case reports [Respir Med Case Rep] 2023 Mar 13; Vol. 43, pp. 101838. Date of Electronic Publication: 2023 Mar 13 (Print Publication: 2023). |
| DOI: | 10.1016/j.rmcr.2023.101838 |
| Abstrakt: | Background: The clinical and molecular characteristics of three patients with previously unreported SERPINA1 mutations associated with severe alpha-1 antitrypsin deficiency (AATD) are described. The pathophysiology of the chronic obstructive pulmonary disease (COPD) present in these patients was characterized through clinical, biochemical, and genetic examinations. Case Presentations: Case 1: A 73-year-old male with bilateral centri-to panlobular emphysema and multiple increasing ventrobasal bullae and incomplete fissures, COPD (Global Initiative for Chronic Obstructive Lung Disease (GOLD) grade III B), progressive dyspnea on exertion (DOE), AAT level of 0.1-0.2 g/L. Genetic testing revealed a unique SERPINA1 mutation: Pi*Z/c.1072C > T. This allele was designated PiQ0 Conclusions: Each of these patients had a unique and previously unreported SERPINA1 mutation. In two cases, AATD and a history of smoking led to severe lung disease. In the third case, timely diagnosis, and institution of AAT replacement stabilized lung function. Wider screening of COPD patients for AATD could lead to faster diagnosis and earlier treatment of AATD patients with AATD which could slow or prevent progression of their disease. Competing Interests: PH, MV, TG, EL, JB, KS, KB, MAP, JCS and FH have no conflicts of interest. FCT reported personal fees from GlaxoSmithKline, Novartis and CSL Behring, outside the submitted work. (© 2023 The Authors.) |
| Databáze: | MEDLINE |
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