Book contents
- Frontmatter
- Dedication
- Contents
- Contents
- Contributors
- Foreword to the First Edition
- Preface to the Sixth Edition
- Acknowledgements
- Chapter 1 The normal lung: histology, embryology, development, aging and function
- Chapter 2 Lung specimen handling and practical considerations
- Chapter 3 Congenital abnormalities and pediatric lung diseases, including neoplasms
- Chapter 4 Pulmonary bacterial infections
- Chapter 5 Pulmonary viral infections
- Chapter 6 Pulmonary mycobacterial infections
- Chapter 7 Pulmonary mycotic infections
- Chapter 8 Pulmonary parasitic infections
- Chapter 9 Acute lung injury
- Chapter 10 Interstitial lung diseases
- Chapter 11 Metabolic and inherited connective tissue disorders involving the lung
- Chapter 12 Hypersensitivity pneumonitis
- Chapter 13 Sarcoidosis
- Chapter 14 Occupational lung disease
- Chapter 15 Eosinophilic lung disease
- Chapter 16 Drug- and therapy-induced lung injury
- Chapter 17 Chronic obstructive pulmonary disease and diseases of the airways
- Chapter 18 Pulmonary vascular pathology
- Chapter 19 Pulmonary vasculitis and pulmonary hemorrhage syndromes
- Chapter 20 The pathology of lung transplantation
- Chapter 21 The lungs in connective tissue disease
- Chapter 22 Benign epithelial neoplasms and tumor-like proliferations of the lung
- Chapter 23 Pulmonary pre-invasive disease
- Chapter 24 Epidemiological and clinical aspects of lung cancer
- Chapter 25 Lung cancer staging
- Chapter 26 Immunohistochemistry in the diagnosis of pulmonary tumors
- Chapter 27 Adenocarcinoma of the lung
- Chapter 28 Squamous cell carcinoma of the lung
- Chapter 29 Large cell carcinoma and adenosquamous carcinoma of the lung
- Chapter 30 Salivary gland neoplasms of the lung
- Chapter 31 Neuroendocrine tumors and other neuroendocrine proliferations of the lung
- Chapter 32 Sarcomatoid carcinomas and variants
- Chapter 33 Mesenchymal and miscellaneous neoplasms
- Chapter 34 Pulmonary lymphoproliferative diseases
- Chapter 35 Metastases involving the lungs
- Chapter 36 Diseases of the pleura
- Index
- References
Chapter 11 - Metabolic and inherited connective tissue disorders involving the lung
Published online by Cambridge University Press: 05 June 2014
- Frontmatter
- Dedication
- Contents
- Contents
- Contributors
- Foreword to the First Edition
- Preface to the Sixth Edition
- Acknowledgements
- Chapter 1 The normal lung: histology, embryology, development, aging and function
- Chapter 2 Lung specimen handling and practical considerations
- Chapter 3 Congenital abnormalities and pediatric lung diseases, including neoplasms
- Chapter 4 Pulmonary bacterial infections
- Chapter 5 Pulmonary viral infections
- Chapter 6 Pulmonary mycobacterial infections
- Chapter 7 Pulmonary mycotic infections
- Chapter 8 Pulmonary parasitic infections
- Chapter 9 Acute lung injury
- Chapter 10 Interstitial lung diseases
- Chapter 11 Metabolic and inherited connective tissue disorders involving the lung
- Chapter 12 Hypersensitivity pneumonitis
- Chapter 13 Sarcoidosis
- Chapter 14 Occupational lung disease
- Chapter 15 Eosinophilic lung disease
- Chapter 16 Drug- and therapy-induced lung injury
- Chapter 17 Chronic obstructive pulmonary disease and diseases of the airways
- Chapter 18 Pulmonary vascular pathology
- Chapter 19 Pulmonary vasculitis and pulmonary hemorrhage syndromes
- Chapter 20 The pathology of lung transplantation
- Chapter 21 The lungs in connective tissue disease
- Chapter 22 Benign epithelial neoplasms and tumor-like proliferations of the lung
- Chapter 23 Pulmonary pre-invasive disease
- Chapter 24 Epidemiological and clinical aspects of lung cancer
- Chapter 25 Lung cancer staging
- Chapter 26 Immunohistochemistry in the diagnosis of pulmonary tumors
- Chapter 27 Adenocarcinoma of the lung
- Chapter 28 Squamous cell carcinoma of the lung
- Chapter 29 Large cell carcinoma and adenosquamous carcinoma of the lung
- Chapter 30 Salivary gland neoplasms of the lung
- Chapter 31 Neuroendocrine tumors and other neuroendocrine proliferations of the lung
- Chapter 32 Sarcomatoid carcinomas and variants
- Chapter 33 Mesenchymal and miscellaneous neoplasms
- Chapter 34 Pulmonary lymphoproliferative diseases
- Chapter 35 Metastases involving the lungs
- Chapter 36 Diseases of the pleura
- Index
- References
Summary
Introduction
Lung involvement presenting in the course of metabolic disorders is usually overshadowed by features of the underlying disease. Pulmonary involvement is rarely the initial presenting feature. This constitutes a diagnostic challenge, particularly in adults, since the changes on biopsy are frequently nonspecific and a diagnosis of metabolic lung disease may not be considered. The pulmonary pathologist needs to be aware of the repertoire of lung pathology in these diseases to facilitate early diagnosis. This is ever more important, not only for genetic counseling but also for prompt therapy.
Lysosomal storage diseases
Lysosomal storage diseases constitute a group of inherited disorders characterized by lack of a protein essential for normal lysosomal function. As a consequence, substrate accumulates in cells of various organs. Marked phenotypic heterogeneity characterizes many of these diseases with regard to age of onset, severity of symptoms and organs affected including the central nervous system (CNS). In many metabolic diseases the lungs are involved and in some cases the pulmonary involvement is significant. These usually present with interstitial infiltration, airways obstruction or pulmonary hypertension.
- Type
- Chapter
- Information
- Spencer's Pathology of the Lung , pp. 409 - 438Publisher: Cambridge University PressPrint publication year: 2000