Treatment Of Cystic Fibrosis And Other Rare Lung Diseases

This volume describes the pathogenesis and pathophysiology of several pulmonary diseases as well as their treatment. It also discusses the underlying genetic and molecular biological basis, which opens the way for new treatments for these conditions. It focuses on the treatment of cystic fibrosis including CFTR (cystic fibrosis transmembrane-conductance regulator) modulator therapies, drug therapies that augment airway surface liquid as well as anti-inflammatory and anti-infective therapies. Further topics include long-term, low-dose macrolide therapy for diffuse panbronchiolitis; novel agents for previously untreatable idiopathic pulmonary fibrosis; possible new treatments for pulmonary alveolar proteinosis (PAP); and multiple novel therapeutic targets for treating lymphangiomyomatosis. Research into these conditions has led to major advances in our understanding of the underlying genetic and molecular basis of this disease, and to dramatic improvements in survival and quality of life for affected individuals.

Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease provides a comprehensive, clinically focused textbook on rare and so-called ‘orphan’ pulmonary diseases. The book is oriented towards the diagnostic approach, including manifestations suggesting the disease, diagnostic criteria, methods of diagnostic confirmation, and differential diagnosis, with an overview of management.

The study of rare lung disorders enhances our understanding of common pulmonary diseases such as fibrosis and emphysema. Molecular Basis of Lung Disease: Insights from Rare Disorders brings together a panel of distinguished clinicians and molecular scientists who are experts in a range of rare lung diseases and their underlying molecular defects. Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment strategies, as well as future therapeutic targets and directions. Disorders ranging from the Marfan and Goodpasture’s syndromes to Sarcoidosis and alpha one titrypsin deficiency are treated in detail. Written for pulmonary clinicians and scientists alike, Molecular Basis of Lung Disease: Insights from Rare Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and treatment strategies for these debilitating disorders.

The second edition comprehensively reviews the wide field of rare pulmonary diseases. Issues such as less common diseases affecting the airways, systematic disorders with lung involvement, interstitial lung diseases, and many other orphan conditions of the lungs are explored in this book. The progress and advances made in the field and the limited number of patients presenting each condition makes it very difficult for clinicians to be up-to-date in this field. Readers will discover how to diagnose and manage these rare orphan diseases. Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease is a practical, informative book written by a team of international authors with much experience in rare pulmonary diseases Orphan Lung Diseases: A Clinical Guide to Rare Lung Disease, second edition provides synthesized and easily accessible information about the main orphan lung diseases, to aid clinicians in charge of patients with rare disease, or who consider the diagnosis of a rare disease in their patient. It is a practical, informative guide written by a team of international experienced authors in rare pulmonary diseases.

This book presents state-of-the-art pre-clinical models and clinical applications of stem-cell-based therapies applied to different lung diseases, with a special focus on the translation of bench data into clinical studies. Starting with the assumption that abnormal lung tissue repair and regeneration has emerged as the driving force underlying pathogenesis and progression in many lung diseases, it sheds new light on the potential of stem/stromal cells as drivers of repair and sources of reparative factors in the lung. The first part of the book offers an overview of stem cell types and mechanisms involved in lung development, homeostasis, repair and regeneration, and reveals the crucial role of the extracellular matrix within the lung microenvironment. In the second part, leading experts present the latest pre-clinical evidence and clinical applications of stem-cell-based therapies in a wide variety of lung diseases, ranging from COPD and lung fibrosis to other rare lung diseases. The last section discusses stem cell delivery systems and devices, such as aerosolised spray application. This book appeals to pneumologists, stem cell and matrix biologists, as well as bioengeneers with a special interest in regenerative medicine applied to pulmonary diseases.

This book aims to be a complete guide to diagnose, manage, and treat rare lung diseases encountered by practicing pulmonologists and trainees. It extensively covers the "more common" of the rare lung diseases, categorizing them based on developmental lung anomalies in adults, airway disorders, diffuse parenchymal lung diseases, neoplasms, rare vascular disorders, and other miscellaneous conditions. This comprehensive review facilitates the study and understanding of this complex and diverse set of disorders, focusing on differential diagnosis, evidence-based discussions of management algorithms, and thoughtful analysis of treatment options. Key Features * Reviews multiple rare lung diseases, including ones acquired congenitally to be expressed in old age * Enriched with case studies and illustrations to guide respiratory physicians and trainees to devise an effective treatment plan *Focuses on concerned investigations, with a section on the role of new procedures in management

This book is a comprehensive reference on diffuse cystic lung diseases (DCLDs). DCLDs are a group of pathophysiologically heterogenous processes that are characterized by the presence of multiple spherical or irregularly shaped, thin-walled, air-filled spaces within the pulmonary parenchyma. In recent years, tremendous advancements have been made in these diseases leading to improved understanding of the underlying pathophysiology, and improved outcomes with targeted therapies. The authors, who are leading experts in the field, delineate DCLDs as a separate category distinct from other interstitial lung diseases, and have created this textbook specifically dedicated to this disease group. This book begins with a chapter introducing the definition and classification of DCLDs. Subsequent chapters address the pathogenic mechanisms underlying pulmonary cyst formation and provide a detailed overview of the radiological and pathological features of DCLDs. The common as well as uncommon causes of DCLDs are comprehensively reviewed in individual chapters, as are the varied clinical presentations and extrapulmonary manifestations, and approaches to management and treatment. The book culminates in a final chapter that presents a practical algorithmic approach to diagnosis that progresses from least invasive to most invasive approaches. This textbook provides a one-stop, comprehensive and integrated, clinical, radiologic, and pathologic overview of DCLDs that will be as useful to the practicing clinician as it is to the clinical investigator.

This book has been replaced by "Rare Diseases of the Respiratory System", ISBN 978-1-84984-167-2 A respiratory physician is only likely to see a few orphan lung diseases each year or even during their career. However, it is essential that specialists are able identify, confirm and diagnosis orphan lung disease in a patient. This Monograph comprehensively covers the most common and/or complex orphan lung diseases. It should be seen as a solid companion to the respiratory specialist each time they need to consider a diagnosis of an orphan disease.

Written and edited by global leaders in this challenging field, Rare and Interstitial Lung Diseases: Clinical Cases and Real-World Discussions brings you up to date with the latest advances in complex or rare lung diseases managed on outpatient or inpatient respiratory or critical care units. Using a unique, case-based approach, a wide variety of cases are presented along with perspectives from a multidisciplinary team of experts who discuss therapeutic choices and rationales. This real-world approach allows the reader to become a virtual attending physician, simulating a realistic clinical reasoning process on the diagnosis, treatment, and follow-up of patients with rare and complex lung diseases. Reflects a nuanced, multidisciplinary, evidence-based approach to diagnoses, treatment options, and follow-up criteria for complex and rare pulmonary disorders such as idiopathic pulmonary fibrosis, interstitial lung disease related to connective tissue diseases, hypersensitivity pneumonitis, sarcoidosis, and pulmonary vascular disease. Each case includes onset of symptoms, diagnostic/therapeutic path, and discussions on the clinical choices made in accordance with evidence-based medical procedures. Describes each clinical and laboratory finding and features 150 images, including plain film, procedural photos, ultrasound images, CT scans, and histopathology specimens. Includes the most recent updates to international guidelines (ATS/ERS/JRS/ALAT) on idiopathic pulmonary fibrosis (IPF). Covers the progression of pulmonary fibrosis in patients with ILD other than IPF; the role of transbronchial lung cryobiopsy (TBLC) in obtaining a tissue diagnosis in patients with undiagnosed ILD; and the indications of antifibrosant drugs. A practical and interactive resource for pulmonologists, as well as critical care and internal medicine practitioners and fellows, thoracic surgeons, and thoracic radiologists. Any additional digital ancillary content may publish up to 6 weeks following the publication date.

Difficult to Diagnose Rare Diffuse Lung Disease presents the theoretical basis and practical aspects of differential diagnoses of rare lung diseases with the use of new method of probe-based confocal laser endomicroscopy (alveoscopy) of the distal respiratory region. Each chapter describes signs and symptoms of the disease and its typical and atypical manifestations. The book contains full color illustrations, including high-resolution histological microphotographs, CT-scans and confocal laser endomicroscopy images. In combination, these elements make this book an invaluable reference and guide for pulmonary researchers, pulmonologists, radiologists, and pathologists who wish to broaden their spectrum of knowledge in rare lung diseases. Highlights the new method of probe-based confocal laser endomicroscopy (alveoscopy) of the distal respiratory region, opening new horizons in the minimally invasive diagnosis of lung diseases Discusses current treatment strategies in accordance with clinical guidelines, including data from the latest clinical trials Presented in tabular format to aid in the diagnostic process