Lysosomal Storage Disorders: Principles and Practice

✍ Scribed by Gregory M., M.D. Pastores

• Publisher: World Scientific Publishing Company
• Year: 2009
• Tongue: English
• Leaves: 179
• Edition: 1
• Category: Library

✦ Synopsis

This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject. A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician.

✦ Table of Contents

Foreword......Page 6
Preface......Page 8
Contents......Page 12
List of Abbreviations......Page 14
List of Figures......Page 18
Vignette......Page 20
The Lysosome and Storage Defects......Page 24
Clinical Presentations and Diagnosis......Page 31
Screening and Genetic Counseling Issues......Page 37
References......Page 38
Vignette......Page 40
2. Clinical Perspectives......Page 42
Manifesting Signs and Corresponding Diagnostic Entities......Page 43
Generalized: Non-immune hydrops fetalis......Page 44
Head, eyes, nose, ears and throat involvement......Page 50
Neurologic problems (Table 2.2)......Page 54
Cardiopulmonary problems......Page 56
Visceral problems......Page 57
Skeletal problems......Page 58
References......Page 59
Vignette......Page 62
3. Diagnostic Confirmation and Screening Protocols......Page 66
Points of note......Page 70
Diagnostic confirmation, including prenatal diagnosis......Page 68
Biochemical Testing......Page 69
Molecular Testing......Page 71
Specialized Testing and Other Considerations......Page 73
Screening Programs......Page 74
Issues Related to Genetic Counseling......Page 76
References......Page 77
Vignette......Page 82
4. Assessment of Disease Burden and Assignment of Disease Severity......Page 84
Nervous system involvement......Page 85
Cardiopulmonary involvement......Page 89
Musculoskeletal involvement......Page 90
Disease Severity Scores......Page 91
Quality of Life Studies......Page 107
References......Page 110
Vignette......Page 116
5. Pathophysiology and Biomarkers......Page 118
Morphological Observations and Biochemical Correlates......Page 120
1. Neurotoxicity and aberrant inflammation......Page 125
2. Activation of ER-stress response, oxidative stress and apoptosis......Page 128
3. Autophagy and associated defects......Page 129
Miscellaneous Findings......Page 130
Biomarkers and Their Roles in Assignment of Disease Activity or Severity, and Changes in Patient Profile in Response to Therapy......Page 132
References......Page 135
Vignette......Page 142
6. Current and Emerging Therapies......Page 144
Cellular Transplantation......Page 145
Biochemical and Molecular Observations......Page 124
Enzyme Replacement Therapy (ERT)......Page 147
Substrate Reduction Therapy (SRT)......Page 149
Substrate Depletion or Modulation Therapy......Page 150
Chaperone-Mediated Enzyme Enhancement Therapy......Page 151
Gene Therapy......Page 152
Palliative Care......Page 153
Organ Transplantation......Page 154
Further Points to Consider......Page 155
References......Page 156
Lysosomal Biogenesis and Function......Page 162
Pathogenesis......Page 163
Animal Models......Page 164
Phenotype......Page 165
Blood-Brain Barrier......Page 166
Strategies to Improve Therapeutic Outcome......Page 167
References......Page 168
Disease Index......Page 172
General Index......Page 176