van Lierop Antoon H, Appelman-Dijkstra Natasha M, Papapoulos Socrates E
Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
Bone. 2017 Mar;96:51-62. doi: 10.1016/j.bone.2016.10.010. Epub 2016 Oct 11.
Sclerosteosis and van Buchem disease are two rare bone sclerosing dysplasias caused by genetic defects in the synthesis of sclerostin. In this article we review the demographic, clinical, biochemical, radiological, and histological characteristics of patients with sclerosteosis and van Buchem disease that led to a better understanding of the role of sclerostin in bone metabolism in humans and we discuss the relevance of these findings for the development of new therapeutics for the treatment of patients with osteoporosis.
骨硬化症和范布希姆病是两种罕见的骨硬化发育异常疾病，由骨硬化蛋白合成中的基因缺陷引起。在本文中，我们回顾了骨硬化症和范布希姆病患者的人口统计学、临床、生化、放射学和组织学特征，这些特征有助于更好地理解骨硬化蛋白在人类骨代谢中的作用，并且我们讨论了这些发现对于开发治疗骨质疏松症患者的新疗法的相关性。
