儿童骨骼发育异常相关矮小——COMP基因变异所致儿童骨骼发育障碍  

Short stature associated with skeletal dysplasia in children:Skeletal dysplasia patients with COMP gene variants

作　　者：巩纯秀[1] 郑艳楠 陈佳佳[1] GONC Chun-xiui;ZHENG Yan-nan;CHEN Jia-jia(Department of Endocrinolgy,Genetics and Metab-olism,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;不详)

机构地区：[1]国家儿童医学中心、首都医科大学附属北京儿童医院内分泌遗传代谢科,北京100045 [2]北京市东城区妇幼保健计划生育服务中心儿科,北京100061

出　　处：《中国实用儿科杂志》2023年第11期829-834,共6页Chinese Journal of Practical Pediatrics

基　　金：北京市研究型病房建设示范单位科研项目(BCRW202101)。

摘　　要：儿童骨骼发育异常相关矮小为原发性生长障碍,其特征为骨和(或)软骨异常,还可累及肌肉、韧带和肌腱,常表现为非匀称性矮小。随着分子检测技术的广泛应用,越来越多患者获得了病因诊断,同一骨病可以由不同基因变异引起,且同一基因的不同位点变异可以引起不同骨病。其中COMP基因变异所致的儿童骨骼发育异常常以矮小的主诉来诊,属于罕见病,易误诊漏诊。COMP基因变异可致假性软骨发育不全(pseudoachondroplasia,PSACH)及多发性骨骺发育不良(multiple epiphyseal dysplasia,MED)两类疾病。骨龄片可以发现掌指骨和骨骺异常的迹象,但因表型差异大,临床认识不足,早期发现并诊断存在一定困难,该文主要针对COMP基因变异所致儿童骨骼发育异常相关矮小做论述,旨在加强对该病的认识。Skeletal dysplasia with short stature in children is a primary growth disorder characterized by abnormal bone and cartilage,some of which also involve muscles,ligaments,and tendons,often presenting as asymmetric short stature.With the wide application of molecular detection technology,more and more patients have obtained a clear etiological diagnosis,and it has been found that the same bone disease can be caused by the variation of several genes,and the variation of different sites of the same gene can cause several bone abnormalities.Among them,skeletal dysplasia caused by COMP gene variation in children are rare diseases and easily misdiagnosedwith the main complaint of short stature,which needs to be distinguished from some relatively common skeletal dysplasia diseases with obvious clinical characteristics.COMP gene variation can lead topseudoachondroplasia(PSACH)and multiple epiphyseal dysplasia(MED).Both diseases often came to the hospitals with chief complaints of short stature.Clinically,abnormal signs of metacarpal bone,phalangeal bone and epiphysis can be found by taking bone age X-ray films of the left wrist and hand.However,early detection and diagnosis are difficult due to phenotypes differ greatly and clinical understanding is insufficient.The expert writing mainly discusses the spectrum of children with short stature with skeletal dysplasia caused by COMP gene mutation,aiming at strengthening the underst-anding of this disease.

关 键 词：儿童骨骼发育异常 矮小 COMP基因变异 假性软骨发育不全 多发性骨骺发育不良 

分 类 号：R72[医药卫生—儿科]