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Abstract：
During the past 15 years there has been an expansion of our knowledge of the cellular and molecular mechanisms regulating bone remodeling that identified new signaling pathways fundamental for bone renewal as well as previously unknown interactions between bone cells. Central for these developments have been studies of rare bone disorders. These findings, in turn, have led to new treatment paradigms for osteoporosis some of which are at late stages of clinical development. In this article, we review three rare skeletal disorders with case descriptions, pycnodysostosis and the craniotubular hyperostoses sclerosteosis and van Buchem disease that led to the development of cathepsin K and sclerostin inhibitors, respectively, for the treatment of osteoporosis.
摘要：
在过去的15年中，我们对调节骨重塑的细胞和分子机制的知识得到了扩展，这些机制确定了骨更新的新信号通路以及骨细胞之间以前未知的相互作用。这些发展的核心是对罕见骨骼疾病的研究。这些发现,反过来,已经导致了骨质疏松症的新治疗范例，其中一些处于临床发展的后期阶段。在这篇文章中,我们回顾了三种罕见的骨骼疾病的病例描述，肾盂畸形和颅管增生硬化病和vanBuchem病，导致组织蛋白酶K和硬化蛋白抑制剂的发展，分别,用于治疗骨质疏松症。
