Clinical and Biochemical Disorders of the Skeleton

by Smith, Roger; Wordsworth, Paul

• ISBN13: 9780192617408
• ISBN10: 0192617400
• Format: Hardcover
• Copyright: 2005-04-21
• Publisher: Oxford University Press

Summary

This book is the definitive guide on the subject. It comprehensively covers common polygenic and rare monogenic disorders and emphasizes the new advances which have been made in bone cell biology and in human skeletal disease, particularly as a result of molecular medicine. This accessibleand well-illustrated book is written for postgraduates and clinicians who find disorders of the skeleton mysterious, and for whom an understandable explanation has been hard to find. It will be of particular interest to those who look after patients with a wide variety of metabolic bone diseases,including general physicians, rheumatologists, endocrinologists and orthopaedic surgeons, and contains new information of interest to paediatricians and geneticists.

Table of Contents

Introduction	1	(4)
The physiology and pathology of bone	5	(66)
Introduction	5	(1)
Skeletal development	6	(1)
Structure of bone	7	(2)
Bone cells	9	(13)
Bone mass	22	(5)
Bone matrix	27	(7)
Cartilage matrix	34	(1)
Bone mineralization	35	(1)
Calcium metabolism	35	(7)
Phosphorus and magnesium metabolism	42	(1)
Measurements of bone cell turnover	43	(4)
Genetics, the human genome, and DNA technology	47	(12)
Transgenic animals in bone biology	59	(1)
Bone and cartilage in disease	59	(2)
Discussion	61	(1)
Summary	62	(9)
Diagnosis and investigation	71	(38)
Introduction	71	(1)
Growth and stature	71	(2)
Clinical features	73	(7)
Investigation	80	(1)
Biochemistry	80	(12)
Radiological investigations	92	(9)
Bone biopsy	101	(3)
Other investigations	104	(1)
Discussion	104	(1)
Summary	104	(5)
Osteoporosis	109	(64)
Introduction	109	(2)
Definition	111	(2)
Osteoporosis and fracture	113	(1)
Epidemiology and cost of fracture	114	(6)
Pathophysiology	120	(3)
Bone mass and density	123	(2)
Bone strength	125	(1)
Causes of osteoporosis	126	(1)
Postmenopausal osteoporosis	127	(17)
Other causes of osteoporosis	144	(13)
Discussion	157	(1)
Summary	158	(15)
Osteomalacia and rickets	173	(34)
Introduction	173	(1)
Causes	174	(1)
Pathophysiology	175	(1)
Clinical features	176	(7)
Specific types of osteomalacia	183	(16)
Discussion	199	(1)
Summary	200	(7)
Parathyroids and the skeleton	207	(20)
Introduction	207	(1)
Hypercalcaemia	207	(1)
Parathyroid overactivity	208	(8)
Parathyroid deficiency and resistance	216	(5)
Discussion	221	(1)
Summary	221	(6)
Paget disease	227	(24)
Introduction	227	(1)
Pathophysiology	227	(3)
Epidemiology	230	(1)
Genetics	231	(1)
Clinical features	232	(4)
Biochemistry	236	(1)
Radiology	237	(1)
Pathology	238	(1)
Differential diagnosis	239	(1)
Treatment	240	(4)
Familial expansile osteolysis	244	(1)
Expansile skeletal hyperphosphatasia	244	(1)
Juvenile Paget disease (idiopathic hyperphosphatasia)	245	(1)
Discussion	246	(1)
Summary	247	(4)
Neoplastic disease and other non-parathyroid causes of hypercalcaemia	251	(14)
Introduction	251	(1)
Pathophysiology of cancer of the skeleton	252	(4)
Other non-parathyroid causes of hypercalcaemia	256	(2)
Pathophysiology of hypercalcaemia	258	(1)
Clinical features of hypercalcaemia	258	(1)
Differential diagnosis of hypercalcaemia	259	(1)
Treatment of hypercalcaemia	259	(1)
Discussion	260	(1)
Summary	261	(4)
Osteogenesis imperfecta	265	(32)
Introduction	265	(1)
Definition and classification	265	(2)
Pathophysiology	267	(2)
Clinical types	269	(7)
Investigation	276	(1)
Diagnosis	276	(1)
Prognosis	277	(1)
Management	278	(3)
Biochemistry: genotype and phenotype	281	(2)
Genetic advice	283	(1)
Prenatal diagnosis	284	(1)
Non-accidental injury	285	(1)
Osteoporosis--pseudoglioma syndrome	286	(1)
Discussion	286	(3)
Summary	289	(8)
Chondrodysplasias	297	(30)
Introduction	297	(3)
Definition and classification	300	(1)
Pathophysiology	300	(1)
Achondroplasia	301	(5)
Hypochondroplasia	306	(1)
Thanatophoric dwarfism	306	(1)
Spondyloepiphyseal dysplasias	306	(2)
Stickler syndrome	308	(1)
Kniest dysplasia	309	(1)
Achondrogenesis	310	(1)
Multiple epiphyseal dysplasia	311	(1)
Pseudoachondroplasia	311	(2)
Metaphyseal chondrodysplasias	313	(2)
Diastrophic dysplasia	315	(1)
The craniosynostoses	316	(1)
Other dysplasias	317	(4)
Discussion	321	(1)
Summary	322	(5)
Osteopetrosis and osteosclerosis	327	(22)
Introduction	327	(3)
Classification	330	(1)
The osteopetroses	330	(6)
The osteoscleroses	336	(8)
Discussion	344	(1)
Summary	345	(4)
Marfan syndrome and related disorders	349	(18)
Introduction	349	(1)
Marfan syndrome	350	(11)
Related disorders	361	(2)
Discussion	363	(1)
Summary	364	(3)
Ehlers--Danlos syndrome and related disorders	367	(14)
Introduction	367	(1)
Classification	368	(1)
Pathophysiology	369	(2)
Clinical features	371	(1)
Specific types of Ehlers--Danlos syndrome	372	(5)
Differential diagnosis	377	(1)
Management	377	(1)
Discussion	378	(1)
Summary	378	(3)
Enzyme defects and the skeleton	381	(20)
Introduction	381	(1)
Homocystinuria	382	(4)
Hypophosphatasia	386	(3)
Alkaptonuria	389	(4)
The mucopolysaccharidoses	393	(3)
Disorders of copper enzymes	396	(2)
Discussion	398	(1)
Summary	398	(3)
Fibrous dysplasia	401	(12)
Introduction	401	(1)
Cause	401	(3)
Skeletal pathology	404	(1)
Clinical features	404	(4)
Differential diagnosis	408	(1)
Treatment	409	(1)
Cherubism	410	(1)
Familial craniofacial fibrous dysplasia	410	(1)
Discussion	410	(1)
Summary	411	(2)
Fibrogenesis imperfecta ossium and other disorders of mineralization	413	(10)
Introduction	413	(1)
Fibrogenesis imperfecta ossium	413	(5)
Other disorders of mineralization	418	(2)
Discussion	420	(1)
Summary	420	(3)
Ectopic mineralization	423	(24)
Introduction	423	(1)
Ectopic calcification	424	(6)
Ectopic ossification	430	(13)
Discussion	443	(1)
Summary	444	(3)
Recent advances	447	(8)
Glossary	455	(10)
Appendix
Recommendations for bone marker nomenclature and abbreviations	461	(1)
Height Charts for girls and boys	462	(3)
Index	465