Duchenne型肌营养不良症心脏损害与基因型相关分析  

Correlation analysis between cardiac damage and genotype in Duchenne muscular dystrophy

作　　者：张瑶[1,2] 张成[1] 汤颖[3] 姚凤娟[4] 孙毅明[5] 王友明[2] 王静[2] 王银龙[2] 袁长明[2] 

机构地区：[1]中山大学附属第一医院神经科,广州510080 [2]河北工程大学附属医院神经内科,邮政编码056002 [3]哈尔滨医科大学附属第一医院神经内科,150001 [4]中山大学附属第一医院超声波科,广州510080 [5]中山大学附属第一医院保健科,广州510080

出　　处：《中国现代神经疾病杂志》2015年第6期453-457,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金-广东省联合基金重点资助项目(项目编号:U1032004);国家自然科学基金资助项目(项目编号:81471280);国家自然科学基金资助项目(项目编号:81271401);国家科技支撑计划项目(项目编号:2012BAI09B04);广东省科技计划项目(项目编号:2011A030400006)~~

摘　　要：目的探讨Duchenne型肌营养不良症患者心脏损害演变规律。方法回顾分析144例经基因检测明确诊断的Duchenne型肌营养不良症患者的临床资料,根据超声心动图分为Duchenne型肌营养不良症伴心脏损害组(50例)和不伴心脏损害组(94例),分析基因型与心脏损害的相关性。结果与无心脏损害组相比,心脏损害组患者心房和心室各腔均扩大(P<0.01),左心室后壁和室间隔增厚(P=0.031,0.001),左心室射血分数降低(P=0.034);DMD基因第3(P=0.047)、4(P=0.047)、21(P=0.047)、22(P=0.040)和53(P=0.033)号外显子突变率增加,提示上述外显子突变与心脏损害相关。结论Duchenne型肌营养不良症患者心脏损害呈现扩张型心肌病表现,突变外显子越靠近5’端,心脏损害程度越严重。Objective To explore the evolution of Duchenne muscular dystrophy（DMD） patientswith cardiac damage.MethodsClinical data of 144 DMD patients who were clearly diagnosed by genedetection were collected and analyzed. According to the results of ultrasonic cardiography, they weredivided into cardiac involvement group（N = 50） and non- involvement group（N = 94）. The correlationbetween genotypes and cardiac damage was analyzed.ResultsCompared with non- involvement group,cardiac involvement group had larger atrium and ventricle（P 〈0.01）, thicker posterior wall of left ventricleand interventricular septum（P = 0.031, 0.001）, as well as lower left ventricular ejection fraction（P = 0.034）.In addition, the mutation rates of DMD gene in exon 3（P = 0.047）, exon 4（P = 0.047）, exon 21（P = 0.047）,exon 22（P = 0.040） and exon 53（P = 0.033） were increased significantly, indicating that mutations had acorrelation with cardiac damage.Conclusions The main performance of DMD cardiac damage is dilatedcardiomyopathy. It has more possibility to cause cardiac damage when DMD gene mutation is closer to theend of 5＇-terminal.

关 键 词：肌营养不良 杜氏 心脏病 突变 

分 类 号：R746.2[医药卫生—神经病学与精神病学]