COL6A1内含子变异致Ullrich先天性肌营养不良1例报告并文献复习  

Ullrich congenital muscular dystrophy caused by COL6A1 intron variation:a case report and literature review

作　　者：胡君[1] 林明星[1] 邱鸣琦 吴传军[1] 陈铮 陈燕惠[1] HU Jun;LIN Mingxing;QIU Mingqi;WU Chuanjun;CHEN Zhen;CHEN Yanhui(Key Clinical Specialty in Fujian Province/Department of Pediatrics,Fujian Medical University Union Hospital,Fuzhou 350001,Fujian,China)

机构地区：[1]福建省临床重点专科,福建医科大学附属协和医院儿科,福建福州350001

出　　处：《临床儿科杂志》2021年第11期822-824,828,共4页Journal of Clinical Pediatrics

基　　金：福建省科技创新联合资金项目(No.2018Y9029)。

摘　　要：目的探讨COL6A1内含子变异(+189C>T)所致Ullrich先天性肌营养不良(UCMD)的临床及基因变异特征。方法回顾分析1例确诊UCMD患儿的临床资料,并复习相关文献。结果女性患儿,4岁,16月龄独立行走,24月龄下蹲后站起困难,上下楼梯需要扶助,不会跑、跳。近端肢体无力,以下肢为重,四肢远端关节活动过度,双膝关节挛缩。肌酸激酶轻度增高;肌电图示肌源性损害(上下肢近端肌),伴轻度神经源性损害(上下肢远端肌)。基因检测发现COL6A1(NM_001848.2)存在c.930+189 C>T新发变异。患儿确诊为UCMD后行肌肉按摩、康复训练等治疗,病情进展延缓。文献检索到35例UCMD患儿,新生儿期大多症状相对较少,随着年龄增长逐渐出现UCMD典型临床表现。结论COL6A1+189 C>T新发变异所致UCMD症状出现延迟,随后加速进展。Objective To explore the clinical manifestation and genetic mutation of Ullrich congenital muscular dystrophy(UCMD)caused by COL6A1 intron variation(+189C>T).Methods The clinical data of a child with UCMD were retrospectively analyzed,and the related literature was reviewed.Results A 4-year-old girl walked independently at the age of 16 months.At the age of 24 months,the child had difficulty in getting up from squatting,needed assistance to go up and down stairs,and could not run and jump.Her proximal limbs were weak,especially in the lower limbs.The child had hyperextension of distal joints of the limbs and contracture of both knees.Creatine kinase was slightly increased.The electromyography showed myogenic damage(proximal muscles of upper and lower extremities)with mild neurogenic damage(distal muscles of upper and lower extremities).Genetic testing revealed a de novo variation in COL6A1(NM_001848.2):c.930+189 C>T.After the diagnosis of UCMD,the children were treated with muscle massage and rehabilitation training,and the progress of the disease was delayed.The literature search retrieved 35 children with UCMD,most of whom had relatively few symptoms in the neonatal period,and the typical clinical manifestations of UCMD gradually appeared with age.Conclusions The de novo variation of COL6A1+189 C>T causes delayed onset of UCMD symptoms,followed by accelerated progression.

关 键 词：Ullrich先天性肌营养不良 肌无力 关节畸形 COL6A1基因 内含子 

分 类 号：R746.2[医药卫生—神经病学与精神病学]