从罕见骨骼疾病研究到对复杂骨病的认识

摘要

罕见骨骼疾病是一类主要累及骨骼系统的罕见遗传性疾病.目前已发现的罕见骨病达400余种.随着技术的进步,对罕见骨病的研究发现了很多揭示骨代谢重要调控通路的致病基因,这对于阐明该类骨病及复杂骨病如骨质疏松症的分子遗传机制、推动其靶向精准治疗具有重要意义.本文通过介绍罕见骨病的研究现状,揭示其与复杂骨病的重要关联,为骨代谢或其他疾病的诊治及研究提供新思路.%Rare skeletal disorders are rare genetic disorders primarily involving the skeletal system.Up to present,there have been more than 400 rare skeletal disorders defined.With the technology advancement,studies on rare skeletal disorders have found a number of geoes involved in important bone metabolic pathway,which are significant for its mechanism elucidation and targeted therapy development.In this paper,we introduce the current research status of rare skeletal disorders,revealing its important correlation with complex skeletal disorders such as osteoporosis,which provides new ideas for the diagnosis,treatment and study of metabolic bone diseases or other diseases.