Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

Contributors xi Preface to the Ninth Edition of the Primer: John P. Bilezikian xxiv About ASBMR xxv President’s Preface Michael J. Econs xxvi About the Companion Website xxvii Section I Molecular and Cellular Determinants of Bone Structure and Function 1 Section Editor Karen Lyons 1 Early Skeletal Morphogenesis in Embryonic Development 3 Yingzi Yang 2 Endochondral Ossification 12 Courtney M. Karner and Matthew J. Hilton 3 Local and Circulating Osteoprogenitor Cells and Lineages 20 Naomi Dirckx and Christa Maes 4 Osteoblasts Function, Development, and Regulation 31 Elizabeth W. Bradley, Jennifer J. Westendorf, Andre J. van Wijnen, and Amel Dudakovic 5 Osteocytes 38 Lynda F. Bonewald 6 Osteoclast Biology and Bone Resorption 46 Hiroshi Takayanagi 7 Signal Transduction Cascades Controlling Osteoblast Differentiation 54 David J.J. de Gorter, Gonzalo Sánchez‐Duffhues, and Peter ten Dijke 8 The TGF‐β Superfamily in Bone Formation and Maintenance 60 Ce Shi and Yuji Mishina 9 Recent Developments in Understanding the Role of Wnt Signaling in Skeletal Development and Disease 68 Zhendong A. Zhong, Nicole J. Ethen, and Bart O. Williams 10 Mechanotransduction in Bone Formation and Maintenance 75 Whitney A. Bullock, Lilian I. Plotkin, Alexander G. Robling, and Fredrick M. Pavalko 11 The Composition of Bone 84 Adele L. Boskey and Pamela G. Robey 12 Assessment of Bone Mass, Structure, and Quality in Rodents 93 Jeffry S. Nyman and Deepak Vashishth 13 Skeletal Healing Cellular and Molecular Determinants 101 Alayna E. Loiselle and Michael J. Zuscik 14 Biomechanics of Fracture Healing 108 Elise F. Morgan, Amira I. Hussein, and Thomas A. Einhorn Section II Skeletal Physiology 115 Section Editor Ego Seeman 15 Human Fetal and Neonatal Bone Development 117 Tao Yang, Monica Grover, Kyu Sang Joeng, and Brendan Lee 16 Skeletal Growth a Major Determinant of Bone’s Structural Diversity in Women and Men 123 Ego Seeman 17 Racial Differences in the Acquisition and Age‐related Loss of Bone Strength 131 Shane A. Norris, Marcella D. Walker, Kate Ward, Lisa K. Micklesfield, and John M. Pettifor 18 Calcium, Vitamin D, and Other Nutrients During Growth 135 Tania Winzenberg and Graeme Jones 19 Mechanical Loading and the Developing Skeleton 141 Mark R. Forwood 20 Pregnancy and Lactation 147 Christopher S. Kovacs and Henry M. Kronenberg 21 Menopause and Age‐related Bone Loss 155 Carlos M. Isales and Ego Seeman Section III Mineral Homeostasis 163 Section Editors David Goltzman and Harald Jüppner 22 Regulation of Calcium Homeostasis 165 Line Vautour and David Goltzman 23 Magnesium Homeostasis 173 Aliya Aziz Khan, Asiya Sbayi, and Karl Peter Schlingmann 24 Fetal Calcium Metabolism 179 Christopher S. Kovacs 25 FGF23 and the Regulation of Phosphorus Metabolism 187 Kenneth E. White and Michael J. Econs 26 Gonadal Steroids 194 Stavros C. Manolagas and Maria Schuller Almeida 27 Parathyroid Hormone 205 Thomas J. Gardella, Robert A. Nissenson, and Harald Jüppner 28 Parathyroid Hormone‐Related Protein 212 John J. Wysolmerski and T. John Martin 29 Calcium‐Sensing Receptor 221 Geoffrey N. Hendy 30 Vitamin D Production, Metabolism, Action, and Clinical Requirements 230 Daniel D. Bikle, John S. Adams, and Sylvia Christakos Section IV Investigation of Metabolic Bone Diseases 241 Section Editors Douglas C. Bauer and Klaus Engelke 31 Techniques of Bone Mass Measurement in Children with Risk Factors for Osteoporosis 243 Nicola J. Crabtree and Leanne M. Ward 32 Standard Techniques of Bone Mass Measurement in Adults 252 E. Michael Lewiecki, Paul D. Miller, and Nelson B. Watts 33 Advanced Techniques of Bone Mass Measurements and Strength in Adults 260 Kyle K. Nishiyama, Enrico Dall’Ara, and Klaus Engelke 34 Magnetic Resonance Imaging of Bone 272 Sharmila Majumdar 35 Trabecular Bone Score 277 Barbara C. Silva and William D. Leslie 36 Reference Point Indentation 287 Adolfo Diez‐Perez and Joshua N. Farr 37 Biochemical Markers of Bone Turnover in Osteoporosis 293 Pawel Szulc, Douglas C. Bauer, and Richard Eastell 38 Scintigraphy and PET in Metabolic Bone Disease 302 Lorenzo Nardo, Paola A. Erba, and Benjamin L. Franc 39 Bone Histomorphometry in Clinical Practice 310 Robert R. Recker and Carolina Aguiar Moreira 40 Diagnosis and Classification of Vertebral Fracture 319 James F. Griffith and Harry K. Genant 41 FRAX Assessment of Fracture Risk 331 John A. Kanis, Eugene V. McCloskey, Nicholas C. Harvey, and William D. Leslie Section V Genetics of Bone 341 Section Editor Rajesh V. Thakker 42 Introduction to Genetics 343 Paul J. Newey, Michael P. Whyte, and Rajesh V. Thakker 43 Animal Models Genetic Manipulation 351 Karen Lyons 44 Animal Models Allelic Determinants for Bone Mineral Density 359 J. H. Duncan Bassett, Graham R. Williams, and Robert D. Blank 45 Transcriptional Profiling for Genetic Assessment 367 Aimy Sebastian and Gabriela G. Loots 46 Approaches to Genetic Testing 373 Christina Jacobsen, Yiping Shen, and Ingrid A. Holm 47 Human Genome‐Wide Association Studies 378 Douglas P. Kiel, Emma L. Duncan, and Fernando Rivadeneira 48 Translational Genetics of Osteoporosis From Population Association to Individualized Assessment 385 Bich Tran, Jacqueline R. Center, and Tuan V. Nguyen Section VI Osteoporosis 393 Section Editors Paul D. Miller, Socrates E. Papapoulos, and Michael R. McClung 49 Osteoporosis an Overview 395 Michael R. McClung, Paul D. Miller, and Socrates E. Papapoulos 50 The Epidemiology of Osteoporotic Fractures 398 Nicholas C. Harvey, Elizabeth M. Curtis, Elaine M. Dennison, and Cyrus Cooper 51 Fracture Liaison Service 405 Piet Geusens, John A. Eisman, Andrea Singer, and Joop van den Bergh 52 Sex Steroids and the Pathogenesis of Osteoporosis 412 Matthew T. Drake and Sundeep Khosla 53 Juvenile Osteoporosis 419 Francis H. Glorieux and Craig Munns 54 Transplantation Osteoporosis 424 Peter R. Ebeling 55 Premenopausal Osteoporosis 436 Adi Cohen and Elizabeth Shane 56 Osteoporosis in Men 443 Eric S. Orwoll and Robert A. Adler 57 Bone Stress Injuries 450 Stuart J. Warden and David B. Burr 58 Inflammation‐Induced Bone Loss in the Rheumatic Diseases 459 Ellen M. Gravallese and Steven R. Goldring 59 Glucocorticoid‐Induced Osteoporosis 467 Kenneth Saag and Robert A. Adler 60 Human Immunodeficiency Virus and Bone 474 Michael T. Yin and Todd T. Brown 61 Effects on the Skeleton from Medications Used to Treat Nonskeletal Disorders 482 Nelson B. Watts 62 Diabetes and Fracture Risk 487 Serge Ferrari, Nicola Napoli, and Ann Schwartz 63 Obesity and Skeletal Health 492 Juliet Compston 64 Sarcopenia and Osteoporosis 498 Gustavo Duque and Neil Binkley 65 Management of Osteoporosis in Patients with Chronic Kidney Disease 505 Paul D. Miller 66 Other Secondary Causes of Osteoporosis 510 Neveen A. T. Hamdy and Natasha M. Appelman‐Dijkstra 67 Exercise for Osteoporotic Fracture Prevention and Management 517 Robin M. Daly and Lora Giangregorio 68 Prevention of Falls 526 Heike A. Bischoff‐Ferrari 69 Nutritional Support for Osteoporosis 534 Connie M. Weaver, Bess Dawson‐Hughes, Rene Rizzoli, and Robert P. Heaney 70 Estrogens, Selective Estrogen Receptor Modulators, and Tissue‐Selective Estrogen Complex 541 Tobias J. de Villiers 71 Bisphosphonates for Postmenopausal Osteoporosis 545 Andrea Giusti and Socrates E. Papapoulos 72 Denosumab 553 Aline Granja Costa, E. Michael Lewiecki, and John P. Bilezikian 73 Parathyroid Hormone and Abaloparatide Treatment for Osteoporosis 559 Felicia Cosman and Susan L. Greenspan 74 Combination Anabolic and Antiresorptive Therapy for Osteoporosis 567 Joy N. Tsai and Benjamin Z. Leder 75 Strontium Ranelate and Calcitonin 573 Leonardo Bandeira and E. Michael Lewiecki 76 Adverse Effects of Drugs for Osteoporosis 579 Bo Abrahamsen and Daniel Prieto‐Alhambra 77 Orthopedic Principles of Fracture Management 588 Manoj Ramachandran and David G. Little 78 Adherence to Osteoporosis Therapies 593 Stuart L. Silverman and Deborah T. Gold 79 Cost‐Effectiveness of Osteoporosis Treatment 597 Anna N.A. Tosteson 80 Future Therapies 603 Michael R. McClung Section VII Metabolic Bone Diseases 611 Section Editors Suzanne M. Jan de Beur and Peter R. Ebeling 81 Approach to Parathyroid Disorders 613 John P. Bilezikian 82 Primary Hyperparathyroidism 619 Shonni J. Silverberg, Francisco Bandeira, Jianmin Liu, Claudio Marcocci, and Marcella D. Walker 83 Familial States of Primary Hyperparathyroidism 629 Andrew Arnold, Sunita K. Agarwal, and Rajesh V. Thakker 84 Non‐Parathyroid Hypercalcemia 639 Mara J. Horwitz 85 Hypocalcemia Definition, Etiology, Pathogenesis, Diagnosis, and Management 646 Anne L. Schafer and Dolores M. Shoback 86 Hypoparathyroidism 654 Tamara Vokes, Mishaela R. Rubin, Karen K. Winer, Michael Mannstadt, Natalie E. Cusano, Harald Jüppner, and John P. Bilezikian 87 Pseudohypoparathyroidism 661 Agnès Linglart, Michael A. Levine, and Harald Jüppner 88 Disorders of Phosphate Homeostasis 674 Mary D. Ruppe and Suzanne M. Jan de Beur 89 Rickets and Osteomalacia 684 Michaël R. Laurent, Nathalie Bravenboer, Natasja M. Van Schoor, Roger Bouillon, John M. Pettifor, and Paul Lips 90 Pathophysiology and Treatment of Chronic Kidney Disease–Mineral and Bone Disorder 695 Mark R. Hanudel, Sharon M. Moe, and Isidro B. Salusky 91 Disorders of Mineral Metabolism in Childhood 705 Thomas O. Carpenter and Nina S. Ma 92 Paget Disease of Bone 713 Julia F. Charles, Ethel S. Siris, and G. David Roodman 93 Epidemiology, Diagnosis, Evaluation, and Treatment of Nephrolithiasis 721 Murray J. Favus and David A. Bushinsky 94 Immobilization and Burns Other Conditions Associated with Osteoporosis 730 William A. Bauman, Christopher Cardozo, and Gordon L. Klein Section VIII Cancer and Bone 737 Section Editors Theresa Guise and G. David Roodman 95 Mechanisms of Osteolytic and Osteoblastic Skeletal Lesions 739 G. David Roodman and Theresa Guise 96 Clinical and Preclinical Imaging in Osseous Metastatic Disease 743 Siyang Leng and Suzanne Lentzsch 97 Metastatic Tumors and Bone 752 Julie A. Sterling and Rachelle W. Johnson 98 Myeloma Bone Disease and Other Hematological Malignancies 760 Claire M. Edwards and Rebecca Silbermann 99 Osteogenic Osteosarcoma 768 Yangjin Bae, Huan‐Chang Zeng, Linchao Lu, Lisa L. Wang, and Brendan Lee 100 Skeletal Complications of Breast and Prostate Cancer Therapies 775 Catherine Van Poznak and Pamela Taxel 101 Bone Cancer and Pain 781 Denis Clohisy and Lauren M. MacCormick 102 Radiotherapy‐Induced Osteoporosis 788 Laura E. Wright 103 Skeletal Complications of Childhood Cancer 793 Manasa Mantravadi and Linda A. DiMeglio 104 Medical Prevention and Treatment of Bone Metastases 799 Catherine Handforth, Stella D’Oronzo, and Janet Brown 105 Radiotherapy of Skeletal Metastases 809 Srinivas Raman, K. Liang Zeng, Oliver Sartor, Edward Chow, and Øyvind S. Bruland 106 Concepts and Surgical Treatment of Metastatic Bone Disease 816 Kristy Weber and Scott L. Kominsky Section IX Sclerosing and Dysplastic Bone Diseases 823 Section Editor Michael P. Whyte 107 Sclerosing Bone Disorders 825 Michael P. Whyte 108 Fibrous Dysplasia 839 Michael T. Collins, Alison M. Boyce, and Mara Riminucci 109 The Osteochondrodysplasias 848 Fabiana Csukasi and Deborah Krakow 110 Ischemic and Infiltrative Disorders of Bone 853 Michael P. Whyte 111 Tumoral Calcinosis – Dermatomyositis 861 Nicholas J. Shaw 112 Genetic Disorders of Heterotopic Ossification: Fibrodysplasia Ossificans Progressiva and Progressive Osseous Heteroplasia 865 Frederick S. Kaplan, Robert J. Pignolo, Mona Al Mukaddam, and Eileen M. Shore 113 Osteogenesis Imperfecta 871 Joan C. Marini 114 Fibrillinopathies Skeletal Manifestations of Marfan Syndrome and Marfan‐Related Conditions 878 Gary S. Gottesman and Michael P. Whyte 115 Hypophosphatasia and Other Enzyme Deficiencies Affecting the Skeleton 886 Michael P. Whyte Section X Oral and Maxillofacial Biology and Pathology 891 Section Editor Laurie McCauley 116 Craniofacial Morphogenesis 893 Erin Ealba Bumann and Vesa Kaartinen 117 Development and Structure of Teeth and Periodontal Teeth 901 Petros Papagerakis and Thimios Mitsiadis 118 Genetic Craniofacial Disorders Affecting the Dentition 911 Yong‐Hee Patricia Chun, Paul H. Krebsbach, and James P. Simmer 119 Pathology of the Hard Tissues of the Jaws 918 Paul C. Edwards 120 Osteonecrosis of the Jaw 927 Sotirios Tetradis, Laurie McCauley, and Tara Aghaloo 121 Alveolar Bone Homeostasis in Health and Disease 933 Chad M. Novince and Keith L. Kirkwood 122 Oral Manifestations of Metabolic Bone Diseases 941 Erica L. Scheller, Charles Hildebolt, and Roberto Civitelli 123 Dental Implants and Osseous Healing in the Oral Cavity 949 Takashi Matsuura and Junro Yamashita Section XI Integrative Physiology of the Skeleton 957 Section Editors Mone Zaidi and Clifford J. Rosen 124 Integrative Physiology of the Skeleton 959 Clifford J. Rosen and Mone Zaidi 125 The Hematopoietic Niche and Bone 966 Stavroula Kousteni, Benjamin J. Frisch, Marta Galan‐Diez, and Laura M. Calvi 126 Adipocytes and Bone 974 Clarissa S. Craft, Natalie K. Wee, and Erica L. Scheller 127 The Vasculature and Bone 983 Marie Hélène Lafage‐Proust and Bernard Roche 128 Immunobiology and Bone 992 Roberto Pacifici and M. Neale Weitzmann 129 Cellular Bioenergetics of Bone 1004 Wen‐Chih Lee and Fanxin Long 130 Endocrine Bioenergetics of Bone 1012 Patricia F. Ducy and Gerard Karsenty 131 Central Neuronal Control of Bone Remodeling 1020 Hiroki Ochi, Paul Baldock, and Shu Takeda 132 Peripheral Neuronal Control of Bone Remodeling 1028 Katherine J. Motyl and Mary F. Barbe 133 The Pituitary–Bone Axis in Health and Disease 1037 Mone Zaidi, Tony Yuen, Wahid Abu‐Amer, Peng Liu, Terry F. Davies, Maria I. New, Harry C. Blair, Alberta Zallone, Clifford J. Rosen, and Li Sun 134 Neuropsychiatric Disorders and the Skeleton 1047 Madhusmita Misra and Anne Klibanski 135 Interactions Between Muscle and Bone 1055 Marco Brotto Index 1063