Fijalkowski Igor, Boudin Eveline, Mortier Geert, Van Hul Wim
Department of Medical Genetics, University and University Hospital of Antwerp, Edegem, Belgium.
Curr Osteoporos Rep. 2014 Sep;12(3):243-51. doi: 10.1007/s11914-014-0220-5.
Sclerosing bone dysplasias are a group of rare, monogenic disorders characterized by increased bone density resulting from the disturbance in the fragile equilibrium between bone formation and resorption. Over the last decade, major contributions have been made toward better understanding of the pathogenesis of these conditions. These studies provided us with important insights into the bone biology and yielded the identification of numerous drug targets for the prevention and treatment of osteoporosis. Here, we review this heterogeneous group of disorders focusing on their utility in the development of novel osteoporosis therapies.
骨硬化发育异常是一组罕见的单基因疾病,其特征是由于骨形成与吸收之间脆弱平衡的紊乱导致骨密度增加。在过去十年中,人们在更好地理解这些疾病的发病机制方面取得了重大进展。这些研究为我们提供了有关骨生物学的重要见解,并确定了许多用于预防和治疗骨质疏松症的药物靶点。在此,我们综述这一异质性疾病组,重点关注它们在新型骨质疏松症治疗方法开发中的作用。