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Stephanie Duggins Davis - Cystic Fibrosis: A Multi-Organ System Approach

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Stephanie Duggins Davis Cystic Fibrosis: A Multi-Organ System Approach

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This book provides a comprehensive overview of the multisystem disease, cystic fibrosis, for both pediatric and adult patients. Written by experts in the field, the text outlines the progressive nature of CF as well as the impact of this autosomal recessive disease on the respiratory, gastrointestinal, endocrine, rheumatologic, and renal systems, as well as the patients mental health. The book begins with a chapter describing the history of cystic fibrosis and how the face of this life-shortening disease has changed over the past several decades. The following chapters elucidate the pathophysiology of how cystic fibrosis impacts each organ system. Current management and therapeutics are detailed with step-by-step guidelines for clinicians. This book is unique in that it highlights the entire person, not just the respiratory system, with detailed inclusion of the patient perspectives throughout, informing practice standards and considerations. This is an ideal guide for pediatric and adult physicians who care for patients with cystic fibrosis, as well as respiratory therapists, physical therapists, nurses, nutritionists, and pharmacists who care for these patients.

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Respiratory Medicine Series Editors Sharon I S Rounds Alpert Medical School - photo 1
Respiratory Medicine
Series Editors
Sharon I. S. Rounds
Alpert Medical School of Brown University, Providence, RI, USA
Anne Dixon
University of Vermont, Larner College of Medicine, Burlington, VT, USA
Lynn M. Schnapp
University of Wisconsin - Madison, Madison, WI, USA

More information about this series at http://www.springer.com/series/7665 Respiratory Medicine offers clinical and research-oriented resources for pulmonologists and other practitioners and researchers interested in respiratory care. Spanning a broad range of clinical and research issues in respiratory medicine, the series covers such topics as COPD, asthma and allergy, pulmonary problems in pregnancy, molecular basis of lung disease, sleep disordered breathing, and others. The series editors are Sharon Rounds, MD, Professor of Medicine and of Pathology and Laboratory Medicine at the Alpert Medical School at Brown University, Anne Dixon, MD, Professor of Medicine and Director of the Division of Pulmonary and Critical Care at Robert Larner, MD College of Medicine at the University of Vermont, and Lynn M. Schnapp, MD, George R. And Elaine Love Professor and Chair of Medicine at the University of Wisconsin-Madison School of Medicine and Public Health.

Editors
Stephanie Duggins Davis , Margaret Rosenfeld and James Chmiel
Cystic Fibrosis
A Multi-Organ System Approach
Editors Stephanie Duggins Davis The University of North Carolina at Chapel - photo 2
Editors Stephanie Duggins Davis The University of North Carolina at Chapel - photo 3
Editors
Stephanie Duggins Davis
The University of North Carolina at Chapel Hill, Department of Pediatrics, UNC Childrens Hospital, Chapel Hill, NC, USA
Margaret Rosenfeld
Department of Pediatrics, University of Washington School of Medicine, Division of Pulmonary and Sleep Medicine Seattle Childrens Hospital, Seattle, WA, USA
James Chmiel
Department of Pediatrics, Indiana University School of Medicine, Division of Pediatric Pulmonology, Allergy and Sleep Medicine, Riley Hospital for Children at IU Health, Indianapolis, IN, USA
ISSN 2197-7372 e-ISSN 2197-7380
Respiratory Medicine
ISBN 978-3-030-42381-0 e-ISBN 978-3-030-42382-7
https://doi.org/10.1007/978-3-030-42382-7
Springer Nature Switzerland AG 2020
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, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

This Humana imprint is published by the registered company Springer Nature Switzerland AG

The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Preface

This is an exciting time in the care of people with cystic fibrosis (CF). There are now more adults than children living with CF, and highly effective modulator therapies are poised to dramatically improve outcomes. We offer this book to medical students, residents, and seasoned clinicians wishing for state-of-the-art reviews on all aspects of CF care. Unique features of the book include patients and parents perspectives in many of the chapters, as well as chapters on health disparities and mental health. The book covers major pulmonary and non-pulmonary manifestations of CF as well as advanced lung disease and lung transplantation. There is also a section on the molecular genetics of CF and treatment of the basic defect. Because many excellent reviews on CFTR modulators are readily available, this section covers gene editing and small molecules instead. We dedicate this book to our patients and their families who have inspired and taught us so much.

Stephanie Duggins Davis
Margaret Rosenfeld
James Chmiel
Chapel Hill, NC, USA Seattle, WA, USA Indianapolis, IN, USA
Acknowledgments

I am truly grateful for Sam, Harrison, Jackson, and Parker for their incredible love and support.

-Stephanie Duggins Davis

To my patients for helping me to understand life with CF, and to my colleagues and family for their enduring support.

-Margaret Rosenfeld

To Jennifer, Abigail, James, Michael, my siblings, and my parents for all of the love and support.

-James Chmiel

Contents
Part IIntroduction
Jonathan D. Cogen and Bonnie W. Ramsey
Caroline S. Thomas and Clement L. Ren
Gabriela R. Oates and Michael S. Schechter
Part IIPulmonary Manifestations
Sarath C. Ranganathan
Valerie J. Waters and John J. LiPuma
Michel Mac Aogin , Cline Vidaillac and Sanjay H. Chotirmall
Thomas Ruffles and Claire Wainwright
Deepika Polineni , Dave Nichols and Alex H. Gifford
Kristina Montemayor , Allison A. Lambert and Natalie E. West
Shruti M. Paranjape and Peter J. Mogayzel Jr
Bryan Garcia , Jessica Mattson and Patrick A. Flume
Joseph M. Pilewski
Amar Mandalia and Matthew J. DiMagno
Part IIIGastrointestinal Manifestations
Anna Bertolini , Frank A. J. A. Bodewes , Mordechai Slae and Michael Wilschanski
Adam C. Stein , Nicole Green and Sarah Jane Schwarzenberg
Part IVEndocrine Manifestations
Andrea Granados and Kara S. Hughan
Sophie Gurin , Isabelle Durieu and Isabelle Sermet-Gaudelus
Amanda Reis and Andrew J. White
Andrew Prayle and Bradley S. Quon
Erin Crowley and Cynthia D. Brown
Kathryn L. Behrhorst , Robin S. Everhart and Michael S. Schechter
Emily F. Muther , Jennifer L. Butcher and Kristin A. Riekert
Sangwoo T. Han and Garry R. Cutting
Part VTherapies Directed at the Basic Defect
Jennifer S. Guimbellot and Steven M. Rowe
Mitchell L. Drumm
Contributors
Michel Mac Aogin BSc, PhD
Translational Respiratory Research Laboratory, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore
Kathryn L. Behrhorst MS
Virginia Commonwealth University, Department of Psychology, Richmond, VA, USA
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