脂质沉积性肌病的临床、病理特点及基因学特征分析

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1、授予单位代码10089学号或申请号20153213中国图书分类号R746.9HebeiMedicalUniversity硕士学位论文专业学位脂质沉积性肌病的临床、病理特点及基因学特征分析研究生：卢珊导师：宋学琴教授专业：神经病学二级学院：河北医科大学第二医院2018年3月目录中文摘要···················································································1英文摘要·································································

2、··················2英文缩写···················································································4研究论文脂质沉积性肌病的临床、病理特点及基因学特征分析前言···················································································5材料与方法······································································

3、····6结果···················································································11附图···················································································16附表···················································································21讨论···························

4、························································28结论···················································································32参考文献·············································································33综述脂质沉积性肌病的研究现状···················································36

5、致谢·························································································49个人简历···················································································50中文摘要脂质沉积性肌病的临床、病理特点及基因学特征分析摘要目的：总结河北地区脂质沉积性肌病（LSM）患者临床、病理、基因突变特点。方法：汇总分析肌肉病理肌表现为肌纤维内脂肪异常沉积的27例患者临床、病理资料，进行代谢相关基因检

6、测。结果：1.基因学特征：20例检出与LSM相关的突变基因，以ETFDH基因突变最常见，少见PNPLA2基因突变。2.临床特点：患者均隐匿性起病，慢性病程，各年龄段均有发病，主要表现为四肢近端肌肉无力和运动不耐受，可有躯干肌无力、肢体麻木、肌痛，伴心脏、肝肾、胃肠道等多系统受累。CK、AST升高。肌电图呈肌源性损害，可伴有神经源性损害。血尿代谢提示戊二酸尿症和血清中多种脂酰肉碱增高。3.病理染色特点：LSM肌肉病理表现为肌纤维内脂滴异常沉积，主要累及Ⅰ型纤维，可有线粒体异常和氧化酶分布不均。结论：1.LSM临床表现复杂多样。本组LSM患者在各年龄段均有发病，主要表现为四肢近端肌肉无力

7、和运动不耐受，可伴有躯干肌无力和多系统受累。CK不同程度升高。肌电图呈肌源性损害，可伴有神经源性损害。2.LSM肌肉病理表现为肌纤维内脂滴异常沉积，主要累及Ⅰ型纤维。3.河北地区LSM患者主要为ETFDH基因突变导致的MADD，最常见的突变为c.770A>G及c.1227A>C。4.RR-MADD为最常见类型且治疗效果好，因此对拟诊为LSM的患者进行精准诊断十分必要。需要加强对LSM的认识，提高LSM的诊断水平，指导临床治疗。关键词：脂质沉积性肌病,临床特