骨型正常的致密骨发育不良

J. Spranger, P. Brill, C. Hall, G. Nishimura, A. Superti-Furga, S. Unger
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摘要

本章讨论了正常骨型的致密性骨发育不良,并讨论了骨质疏松、Raine发育不良、婴儿骨质疏松、骨质疏松(中度)、骨质疏松(迟发型)、骨质疏松伴肾小管酸中毒、骨质硬化不良、固凸性骨质疏松、骨质疏松(淋巴水肿、外胚层发育不良、免疫缺陷)、骨质疏松症、骨质疏松症和伴颅硬化的纹状骨病。破骨细胞在骨生长、维持骨健康和骨稳态中起着重要作用。破骨细胞功能障碍或缺乏受许多基因的控制和相互作用,导致骨量增加和骨质疏松表型。骨质疏松的骨密度增加还伴随着一些建模的丧失,导致受影响的硬化横条纹变宽。硬化症的间歇性导致在硬化症带之间存在正常骨密度和正常模型的区域。与异常破骨细胞活性明显“关闭”相关的机制尚未阐明。这部分的大多数情况都与破骨细胞功能失效有关。所讨论的每个病症包括主要的放射学特征、主要的临床表现、遗传学、主要的鉴别诊断、进展、并发症和潜在的治疗方法,以及参考书目。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Dense Bone Dysplasias with Normal Bone Shape
This chapter discusses dense bone dysplasias with normal bone shape and includes discussion on osteopetroses, Raine dysplasia, infantile osteopetrosis, osteopetrosis (intermediate), osteopetrosis (late onset forms), osteopetrosis with renal tubular acidosis, dysosteosclerosis, pyknodysostosis, osteomesopyknosis, osteopetrosis (lymphedema, ectodermal dysplasia, immune defect), osteopoikilosis, melorheostosis, and osteopathia striata with cranial sclerosis. Osteoclasts play important roles during bone growth and in maintaining bone health and bone homeostasis. Dysfunction or lack of osteoclasts is under the control and interaction of many genes and leads to increased bone mass and osteopetrosis phenotypes. Increased bone density in osteopetrosis is also accompanied by some loss of modelling resulting in widening of the affected sclerotic transverse striations. The intermittent nature of the sclerosis results in areas of normal bone density and normal modelling in between the sclerotic bands. The mechanisms related to the apparent “switching off” of the abnormal osteoclastic activity has not yet been elucidated. Most of the conditions in this section are related to a failure of osteoclast function. Each condition discussed includes major radiographic features, major clinical findings, genetics, major differential diagnoses, progress, complications and potential therapies, and a bibliography.
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