Biochemical Disorders of the Skeleton -  Roger K. W. Smith

Biochemical Disorders of the Skeleton (eBook)

Postgraduate Orthopaedics Series
eBook Download: PDF
2014 | 1. Auflage
304 Seiten
Elsevier Science (Verlag)
978-1-4831-6364-2 (ISBN)
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Biochemical Disorders of the Skeleton explores the biochemical and clinical aspects of skeletal disorders, including osteoporosis, osteomalacia, Paget's disease of bone, osteogenesis imperfecta, and Marfan's syndrome. Homocystinuria, Ehlers-Danlos syndrome, mucopolysaccharidoses, hyperphosphatasia and hypophosphatasia, and fibrous dysplasia are also considered. Comprised of 12 chapters, this book begins with an overview of the physiology of bone, with emphasis on the structures produced by bone cells and the different hormones that influence them. The symptoms, signs, and investigation of metabolic bone disease are then described and compared. The following chapters focus on the biochemistry and clinical aspects of disorders affecting the skeleton, from osteoporosis and osteomalacia to Ehlers-Danlos syndrome, fibrous dysplasia, osteopetroses and hyperostoses, and fibrogenesis imperfecta ossium. The final chapter offers a short description of advances that have been made in understanding these biochemical disorders, including the significance of low-plasma calcitonin in women; the role of mithramycin in Paget's disease; and the identification of the different types of osteogenesis imperfecta. This monograph will be a valuable resource for physicians, pediatricians, and orthopedic surgeons.
Biochemical Disorders of the Skeleton explores the biochemical and clinical aspects of skeletal disorders, including osteoporosis, osteomalacia, Paget's disease of bone, osteogenesis imperfecta, and Marfan's syndrome. Homocystinuria, Ehlers-Danlos syndrome, mucopolysaccharidoses, hyperphosphatasia and hypophosphatasia, and fibrous dysplasia are also considered. Comprised of 12 chapters, this book begins with an overview of the physiology of bone, with emphasis on the structures produced by bone cells and the different hormones that influence them. The symptoms, signs, and investigation of metabolic bone disease are then described and compared. The following chapters focus on the biochemistry and clinical aspects of disorders affecting the skeleton, from osteoporosis and osteomalacia to Ehlers-Danlos syndrome, fibrous dysplasia, osteopetroses and hyperostoses, and fibrogenesis imperfecta ossium. The final chapter offers a short description of advances that have been made in understanding these biochemical disorders, including the significance of low-plasma calcitonin in women; the role of mithramycin in Paget's disease; and the identification of the different types of osteogenesis imperfecta. This monograph will be a valuable resource for physicians, pediatricians, and orthopedic surgeons.

Front Cover 1
Biochemical Disorders of the Skeleton 6
Copyright Page 7
Table of Contents 9
Editor's Foreword 8
Preface 10
Acknowledgements 12
Chapter 1. Physiology of Bone and its Control 14
INTRODUCTION 14
COMPOSITION OF BONE 16
CONTROL OF BONE COMPOSITION 34
SUMMARY 45
REFERENCES 45
Chapter 2. Diagnosis of Metabolic Bone Disease 48
INTRODUCTION 48
GROWTH 48
CLINICAL FEATURES 53
BIOCHEMISTRY 61
RADIOLOGY 69
FURTHER INVESTIGATIONS 69
DIAGNOSIS 77
REFERENCES 82
Chapter 3. Osteoporosis 84
INTRODUCTION 84
CLASSIFICATION 86
MEASUREMENT OF BONE MASS 87
TYPES OF OSTEOPOROSIS 88
CLINICAL ASPECTS 92
TREATMENT 96
SOME DIFFERENT TYPES OF OSTEOPOROSIS 98
DISCUSSION 105
SUMMARY 105
REFERENCES 106
Chapter 4. Osteomalacia 108
INTRODUCTION 108
DEFINITION AND CAUSES 108
VITAMIN D 111
CLINICAL FEATURES 117
DIFFERENTIAL DIAGNOSIS 128
DIFFERENT TYPES OF OSTEOMALACIA 129
DISCUSSION 141
SUMMARY 141
REFERENCES 141
Chapter 5. Paget's Disease of Bone 146
INTRODUCTION 146
PATHOPHYSIOLOGY 146
CLINICAL ASPECTS 149
DIFFERENTIAL DIAGNOSIS 165
TREATMENT 165
DISCUSSION AND FUTURE PROBLEMS 169
SUMMARY 170
REFERENCES 170
Chapter 6. Parathyroids and Bone Disease 173
INTRODUCTION 173
PHYSIOLOGY 174
PARATHYROID OVERACTIVITY 176
HYPOPARATHYROIDISM 186
PSEUDOHYPOPARATHYROIDISM (PHP) 190
SUMMARY 191
REFERENCES 191
Chapter 7. Osteogenesis Imperfecta 193
INTRODUCTION 193
CLINICAL PICTURE 193
TREATMENT 210
PROGNOSIS 211
CAUSE 211
CURRENT PROBLEMS 213
SUMMARY 213
REFERENCES 213
Chapter 8. Marfan's Syndrome, Homocystinuria, The Ehlers -Danlos Syndrome 216
INTRODUCTION 216
MARFAN'S SYNDROME 217
HOMOCYSTINURIA 223
CONGENITAL CONTRACTURAL ARACHNODACTYLY 230
IDIOPATHIC SCOLIOSIS 230
THE EHLERS–DANLOS SYNDROME 231
ALKAPTONURIA 233
MENKES KINKY HAIR SYNDROME 236
DISCUSSION 236
SUMMARY 237
REFERENCES 237
Chapter 9. Mucopolysaccharidoses 240
INTRODUCTION 240
BIOCHEMISTRY 242
PATHOLOGY 243
CLINICAL FEATURES 243
DIAGNOSIS 250
TREATMENT 250
SUMMARY 251
REFERENCES 251
Chapter 10. Ectopic Mineralization 252
INTRODUCTION 252
CALCIFICATION SECONDARY TO BIOCHEMICAL CHANGES 252
CALCIFICATION SECONDARY TO TISSUE DAMAGE 254
OSSIFICATION 259
RARE CAUSES OF ECTOPIC MINERALIZATION 264
DISCUSSION 264
SUMMARY 265
REFERENCES 265
Chapter 11. 





266 
INTRODUCTION 266
OSTEOPETROSES 266
HYPERPHOSPHATASIA 279
HYPOPHOSPHATASIA 279
FIBROUS DYSPLASIA 282
FIBROGENESIS IMPERFECTA OSSIUM (FIO) 284
CONCLUSION 284
REFERENCES 284
Chapter 12. Recent Advances 287
REFERENCES 291
Glossary of Abbreviations 294
Index 296

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