核黄素反应性脂质沉积性肌病临床特征与基因突变分析：两家系三例报告并文献复习
目的分析核黄素反应性脂质沉积性肌病临床特征和基因型，以实现早期诊断与治疗。方法与结果两家系3例核黄素反应性脂质沉积性肌病患者主要表现为进行性呼吸肌、四肢近端肌无力，肌电图呈肌源性损害，油红O染色肌纤维内可见脂肪滴沉积。3例患者均存在电子转移黄素蛋白脱氢酶（ETFDH）基因突变，分别为c．250G〉A（Ala84Thr）纯合突变和c．250G〉A（Ala84Thr）、c．524G〉A（Arg175His）复合杂合突变。维生素B2治疗后症状明显改善，1例治疗10个月后呼吸肌和四肢近端肌无力症状完全消失，恢复正常运动功能；1例治疗2个月后行走、跑步如常，颈部肌肉恢复至正常状态；1例治疗2个月后可参加...
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| Published in | 中国现代神经疾病杂志 Vol. 14; no. 6; pp. 479 - 484 |
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| Main Author | |
| Format | Journal Article |
| Language | Chinese |
| Published |
中山大学附属第一医院神经科,广州,510080%南方医科大学珠江医院神经内科,广州,510282%空军航空医学研究所附属医院分子病理中心,北京,100089
2014
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| Subjects | |
| Online Access | Get full text |
| ISSN | 1672-6731 |
| DOI | 10.3969/j.issn.1672-6731.2014.06.004 |
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| Abstract | 目的分析核黄素反应性脂质沉积性肌病临床特征和基因型，以实现早期诊断与治疗。方法与结果两家系3例核黄素反应性脂质沉积性肌病患者主要表现为进行性呼吸肌、四肢近端肌无力，肌电图呈肌源性损害，油红O染色肌纤维内可见脂肪滴沉积。3例患者均存在电子转移黄素蛋白脱氢酶（ETFDH）基因突变，分别为c．250G〉A（Ala84Thr）纯合突变和c．250G〉A（Ala84Thr）、c．524G〉A（Arg175His）复合杂合突变。维生素B2治疗后症状明显改善，1例治疗10个月后呼吸肌和四肢近端肌无力症状完全消失，恢复正常运动功能；1例治疗2个月后行走、跑步如常，颈部肌肉恢复至正常状态；1例治疗2个月后可参加剧烈运动且无疲劳感。结论核黄素反应性脂质沉积性肌病虽然以四肢近端和躯干肌无力，以及运动不耐受为主要表现，但也需注意少数以呼吸肌无力为首发症状的病例，避免漏诊和误诊。维生素B2单药治疗效果极佳，症状可明显好转或痊愈。因此，临床疑似核黄素反应性脂质沉积性肌病患者可尝试维生素B2诊断性治疗。 |
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| AbstractList | 目的 分析核黄素反应性脂质沉积性肌病临床特征和基因型,以实现早期诊断与治疗.方法与结果 两家系3例核黄素反应性脂质沉积性肌病患者主要表现为进行性呼吸肌、四肢近端肌无力,肌电图呈肌源性损害,油红O染色肌纤维内可见脂肪滴沉积.3例患者均存在电子转移黄素蛋白脱氢酶(ETFDH)基因突变,分别为c.250G＞A(Ala84Thr)纯合突变和c.250G＞A(Ala84Thr)、c.524G＞A(Arg175His)复合杂合突变.维生素B2治疗后症状明显改善,1例治疗10个月后呼吸肌和四肢近端肌无力症状完全消失,恢复正常运动功能;1例治疗2个月后行走、跑步如常,颈部肌肉恢复至正常状态;1例治疗2个月后可参加剧烈运动且无疲劳感.结论 核黄素反应性脂质沉积性肌病虽然以四肢近端和躯干肌无力,以及运动不耐受为主要表现,但也需注意少数以呼吸肌无力为首发症状的病例,避免漏诊和误诊.维生素Bz单药治疗效果极佳,症状可明显好转或痊愈.因此,临床疑似核黄素反应性脂质沉积性肌病患者可尝试维生素B2诊断性治疗. 目的分析核黄素反应性脂质沉积性肌病临床特征和基因型，以实现早期诊断与治疗。方法与结果两家系3例核黄素反应性脂质沉积性肌病患者主要表现为进行性呼吸肌、四肢近端肌无力，肌电图呈肌源性损害，油红O染色肌纤维内可见脂肪滴沉积。3例患者均存在电子转移黄素蛋白脱氢酶（ETFDH）基因突变，分别为c．250G〉A（Ala84Thr）纯合突变和c．250G〉A（Ala84Thr）、c．524G〉A（Arg175His）复合杂合突变。维生素B2治疗后症状明显改善，1例治疗10个月后呼吸肌和四肢近端肌无力症状完全消失，恢复正常运动功能；1例治疗2个月后行走、跑步如常，颈部肌肉恢复至正常状态；1例治疗2个月后可参加剧烈运动且无疲劳感。结论核黄素反应性脂质沉积性肌病虽然以四肢近端和躯干肌无力，以及运动不耐受为主要表现，但也需注意少数以呼吸肌无力为首发症状的病例，避免漏诊和误诊。维生素B2单药治疗效果极佳，症状可明显好转或痊愈。因此，临床疑似核黄素反应性脂质沉积性肌病患者可尝试维生素B2诊断性治疗。 |
| Author | 操基清 张成 李亚勤 杨娟 梁颖茵 冯善伟 张旭 利婧 张惠丽 朱瑜龄 耿嘉 杨丽卿 |
| AuthorAffiliation | 中山大学附属第一医院神经科,广州510080 南方医科大学珠江医院神经内科,广州510282 空军航空医学研究所附属医院分子病理中心,北京100089 昆明医学院第一附属医院神经内科,650032 山东省烟台毓璜顶医院神经内科,264000 |
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| DocumentTitleAlternate | Clinical characteristics and gene mutation analysis of riboflavin- responsive lipid storage myopathy： report of 3 cases in 2 families and review of literature |
| DocumentTitle_FL | Clinical characteristics and gene mutation analysis of riboflavin-responsive lipid storage myopathy: report of 3 cases in 2 families and review of literature |
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| Notes | CAO Ji-qing, ZHANG Cheng, LI Ya-qin, YANG Juan, LIANG Ying-yin, FENG Shan-wei, ZHANG Xu, LI Jing, ZHANG Hui-li, ZHU Yu-ling, GENG Jia, YANG Li-qing （1.Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong, China 2.Department of Neurology, Zhujiang Hospital of Southern Medical University, Guangzhou 510282, Guangdong, China 3.Molecular Pathology Center, Hospital Attached to Aeromedicine Institute of Chinese PLA, Beijing 100089, China 4.Department of Anatomy and Neurobiology, Zhongshan School of Medicine, Sun Yat- sen University, Guangzhou 510080, Guangdong, China 5.Department of Neurology, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, Yannan, China 6.Department of Neurology, Yantai Yuhuangding Hospital, Yantai 264000, Shandong, China） Lipidoses; Electron-transferring flavoproteins; Genes; Mutation Objective The clinical manifestation and electron transfer flavoprotein dehydrogenase （ETFDH） gene mutation of riboflavin-responsive l |
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| Title | 核黄素反应性脂质沉积性肌病临床特征与基因突变分析：两家系三例报告并文献复习 |
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