Alpha-1 Antitrypsin Role in Health and Disease
This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children. While it is a rare condition, the mechanisms underlying its clinical manifes
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Adam Wanner Robert A. Sandhaus Editors
Alpha-1 Antitrypsin Role in Health and Disease
Respiratory Medicine Series Editor: Sharon I.S. Rounds
More information about this series at http://www.springer.com/series/7665
Adam Wanner • Robert A. Sandhaus Editors
Alpha-1 Antitrypsin Role in Health and Disease
Editors Adam Wanner, MD Division of Pulmonary and Critical Care Medicine Miller School of Medicine University of Miami Miami, FL, USA
Robert A. Sandhaus, MD, PhD Division of Pulmonary, Critical Care, and Sleep Medicine National Jewish Health Denver, CO, USA
ISSN 2197-7372 ISSN 2197-7380 (electronic) Respiratory Medicine ISBN 978-3-319-23448-9 ISBN 978-3-319-23449-6 (eBook) DOI 10.1007/978-3-319-23449-6 Library of Congress Control Number: 2015954943 Springer Cham Heidelberg New York Dordrecht London © Springer International Publishing Switzerland 2016 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Humana Press is a brand of Springer Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www.springer.com)
Preface
Alpha-1 antitrypsin deficiency is an inherited condition that leads to lung disease in adults and liver disease in children and adults. The condition has a prevalence that varies from country to country, ranging from one in 2750 to one in 4500 live births, and currently is the only known genetic mutation firmly associated with chronic obstructive lung disease in adults. While the mechanisms underlying the clinical manifestations of alpha-1 antitrypsin deficiency have been largely clarified, specific treatment currently is only available for the lung disease. A growing interest of academic investigators and industry in finding new therapeutic solutions for lung and liver disease likely will lead to better clinical outcomes in the foreseeable future. This will necessitate a better effort to detect the condition, which is broadly underdiagnosed at present. The purpose of this book is to summarize what is
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