This chapter discusses metabolic bone diseases. It begins by providing background on bone biology, including the anatomy and cellular/molecular components of bone. It then discusses several specific bone diseases: osteoporosis, osteomalacia, chronic kidney disease-mineral and bone disorder, primary hyperparathyroidism, Paget's disease of bone, and genetic bone diseases like osteogenesis imperfecta. For each disease, it covers causes, clinical features, investigations/diagnosis, and treatment approaches. The chapter provides an overview of key bone diseases and how they impact bone structure and health.
This chapter discusses metabolic bone diseases. It begins by providing background on bone biology, including the anatomy and cellular/molecular components of bone. It then discusses several specific bone diseases: osteoporosis, osteomalacia, chronic kidney disease-mineral and bone disorder, primary hyperparathyroidism, Paget's disease of bone, and genetic bone diseases like osteogenesis imperfecta. For each disease, it covers causes, clinical features, investigations/diagnosis, and treatment approaches. The chapter provides an overview of key bone diseases and how they impact bone structure and health.
This chapter discusses metabolic bone diseases. It begins by providing background on bone biology, including the anatomy and cellular/molecular components of bone. It then discusses several specific bone diseases: osteoporosis, osteomalacia, chronic kidney disease-mineral and bone disorder, primary hyperparathyroidism, Paget's disease of bone, and genetic bone diseases like osteogenesis imperfecta. For each disease, it covers causes, clinical features, investigations/diagnosis, and treatment approaches. The chapter provides an overview of key bone diseases and how they impact bone structure and health.
This chapter discusses metabolic bone diseases. It begins by providing background on bone biology, including the anatomy and cellular/molecular components of bone. It then discusses several specific bone diseases: osteoporosis, osteomalacia, chronic kidney disease-mineral and bone disorder, primary hyperparathyroidism, Paget's disease of bone, and genetic bone diseases like osteogenesis imperfecta. For each disease, it covers causes, clinical features, investigations/diagnosis, and treatment approaches. The chapter provides an overview of key bone diseases and how they impact bone structure and health.
Anatomy of bone 604 HYPERPARATHYROIDISM 628 Bone matrix proteins 605 Clinical, biochemical and histological Cellular elements of bone 607 features 628 Biochemical markers of bone turnover 609 Treatment 629
OSTEOPOROSIS 613 PAGET DISEASE OF BONE 629
Causes of osteoporosis 614 Epidemiology 629 Investigation and diagnosis 615 Aetiology 629 Treatment 617 Natural history 629 Pathology 630 OSTEOMALACIA 620 Clinical features 630 Calciopenic osteomalacia 620 Investigations 630 Phosphopenic osteomalacia 622 Responses to treatment 631 Osteomalacia and acidosis 623 Defective osteoblast function and BONE TURNOVER AND BONE DISEASE osteomalacia 623 IN CHILDREN 632 CHRONIC KIDNEY DISEASE – MINERAL AND GENETIC BONE DISEASES 632 BONE DISORDER 624 Osteogenesis imperfecta 632 Aetiology 624 High bone mass 634 Clinical features 625 Other disorders 634 Investigations 625 CONCLUSION 634 Treatment 627 Bone disease after renal transplantation 628 APPENDICES 635
BONE BIOLOGY elements of bone can be packed together without inter-
vening marrow spaces to form cortical or compact bone, The principal role of the skeleton is a structural one, or they can form an interlacing meshwork of trabeculae maintaining body shape, providing protection for inter- referred to as cancellous or trabecular bone. The diaph- nal organs and, together with the neuromuscular system, ysis of the long bone consists mainly of cortical bone, making locomotion possible. It also has an important whereas the metaphysis and epiphysis have a greater secondary role in mineral homoeostasis, functioning as quantity of trabecular bone, enclosed within a thin corti- a reservoir for calcium ions in particular. Metabolic bone cal envelope. Some 80% of the weight of an adult human diseases can affect both these functions. skeleton consists of cortical bone. However, the surface- to-volume ratio of trabecular bone is very much higher than that of cortical bone and it is metabolically much Anatomy of bone more active. Macroscopic Microscopic The anatomist classifies bones as being either flat (e.g. skull, scapula, mandible, ilium) or long (e.g. the limb At a microscopic level, bone consists of matrix (~35% by bones). Flat bones result from intramembranous ossifi- volume), mineral (~60%) and cells (<5%). The matrix is cation; long bones predominantly from endochondral predominantly type I collagen fibres, usually organized ossification. A long bone consists of a shaft (diaphysis) in layers within which the fibres are parallel to one an- broadening at either end into an epiphysis. The transi- other. In adult bone, the fibre orientation varies from tional zone between the diaphysis and the epiphysis is one layer to the next and this is referred to as lamellar termed the metaphysis. On sectioning a long bone, two bone. If deposited along a flat surface, the lamellae will patterns of organization of bone tissue are found. The be parallel to that surface, but in cortical bone they are