畸形性骨炎分子病因学  

Molecular etiology of Paget s disease of bone

作　　者：章振林[1] 岳华[1] 王鸥 魏哲[1] ZHANG Zhen-lin;YUE Hua;WANG Ou;WEI Zhe(Shanghai Clinical Research Center of Bone Diseases, Department of Osteoporosis and Bone Diseases,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, China;Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union MedicalCollege Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College,Beijing 100730, China)

机构地区：[1]上海交通大学附属第六人民医院骨质疏松和骨病专科上海市骨疾病临床研究中心,上海200233 [2]中国医学科学院,北京协和医学院,北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2021年第6期585-591,共7页Chinese Journal Of Osteoporosis And Bone Mineral Research

基　　金：国家自然科学基金面上项目(81974126,81770874);上海申康医院发展中心新兴前沿技术联合攻关项目(SHDC12018120)。

摘　　要：畸形性骨炎为局灶性骨重建异常的一种代谢性骨病,表现为高骨转换,引起骨骼膨大、骨畸形和骨折。在西方国家为较常见疾病,但在中国是罕见病,以致常被误诊。本病常见于55岁后发病的经典型,多为散发。本病发病机制主要由于影响破骨细胞分化及功能的核因子κB信号通路显著上调,遗传因素在发病中起主要作用,迄今已经鉴定到8个致病基因,包括SQSTM1、OPG、RANK、VCP、hnRNPA2B1、hnRNPA1、ZNF687和PFN1。本文重点阐述近年国内外对本病分子致病机制的研究进展,同时呼吁临床医师重视畸形性骨炎的分子病因,早确诊并及时干预。Paget's disease of bone(PDB)is a metabolic bone disease with focal abnormal bone remodeling.It is characterized by high bone turnover,resulting in bone swelling,deformity,and fracture.It is a common disease in western countries,but it is rare in China,so it is often misdiagnosed.The classic form of the disease usually occurs after the age of 55,and most cases are sporadic.It has been elucidated that the pathogenesis of this disease is mainly due to the significantly upregulation of the nuclear factorκB signaling pathway,which affects the differentiation and function of osteoclasts,and genetic factors play a major role in the pathogenesis.So far,eight pathogenic genes have been identified,including SQSTM1,OPG,RANK,VCP,hnRNPA2B1,hnRNPA1,ZNF687,and PFN1.This paper focuses on the research progress on the molecular pathogenesis of the disease in recent years,and calls on clinicians to pay attention on molecular etiology,early diagnosis,and effective intervention.

关 键 词：畸形性骨炎 分子病因 致病基因 

分 类 号：R681[医药卫生—骨科学]