Glorieux Francis H
Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, McGill University, Montréal, Québec, Canada H3G 1A6.
Best Pract Res Clin Rheumatol. 2008 Mar;22(1):85-100. doi: 10.1016/j.berh.2007.12.012.
Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass, with a wide spectrum of clinical expression. This review gives an update on its classification, the recent developments in the understanding of its pathophysiological mechanisms, and the current status of bisphosphonate therapy. Other therapeutic approaches and future directions of research are briefly discussed.
成骨不全症是一种遗传性疾病,其特征为骨脆性增加和骨量降低,临床表现具有广泛的谱系。本文综述了其分类、对病理生理机制理解的最新进展以及双膦酸盐治疗的现状。还简要讨论了其他治疗方法和未来的研究方向。