成骨不全症的最新进展
Recent developments in osteogenesis imperfecta.
作者信息
Shaker Joseph L, Albert Carolyne, Fritz Jessica, Harris Gerald
机构信息
Endocrinology, Medical College of Wisconsin, Milwaukee, WI, USA.
Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA ; Shriners Hospitals for Children, Chicago, IL, USA.
出版信息
F1000Res. 2015 Sep 7;4(F1000 Faculty Rev):681. doi: 10.12688/f1000research.6398.1. eCollection 2015.
Abstract
Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing) have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and sometimes orthopedic procedures. In this brief review, we will also discuss current understanding of pharmacologic therapies for treatment of OI.
摘要
成骨不全症（OI）是一种罕见的遗传性骨病，与儿童和成人的骨骼脆弱及骨折有关。尽管OI最常与I型胶原蛋白基因的突变相关，但现在已经鉴定出许多其他基因（有些与I型胶原蛋白加工有关）。本文综述了OI的遗传学以及我们对OI骨生物力学特性认识的进展。治疗方法包括物理治疗、预防跌倒，有时还包括骨科手术。在这篇简短的综述中，我们还将讨论目前对治疗OI的药物疗法的认识。
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