【摘要】 目的分析电子转移黄素蛋白脱氢酶(ETFDH)突变所致的核黄素反应性脂质沉积性肌病(RR-MADD)的临床特点、肌肉病理以及血、尿质谱筛查结果和基因突变特点,旨在为早期诊断和治疗提供帮助。方法回顾性分析该院2009年至2019年确诊的15例ETFDH突变所致的脂质沉积性肌病患者的各项资料。结果 15例患者平均发病年龄为(32.1±13.6)岁,均以肢体无力为首发症状,其中四肢起病者占53.3%,双下肢起病者占46.7%。所有患者的肌酶水平均升高;肌电图结果提示80%呈肌源性损害,13.3%为肌源性合并神经源性损害,6.7%结果正常。血、尿质谱的阳性检出率分别为66.7%和22.2%;基因检测提示所有患者存在ETFDH基因不同位点突变,其中单一杂合突变和复合杂合突变各占40%,纯合突变占20%。结论该病以波动性肌无力伴肌酶升高为主要表现,患者应尽快行肌肉病理检查,同时联合血、尿代谢筛查和基因检测有助于RR-MADD患者早期诊断和及时治疗。更多还原

【Abstract】 Objective To investigate the clinical features,muscle pathological changes,blood and urine screening by mass spectrometry,and gene mutations of riboflavin responsive multiple acyl-CoA dehydrogenation deficiency( RR-MADD) caused by electron transfer flavoprotein dehydrogenase( ETFDH) mutation,and to provide help for early diagnosis and treatment.Methods A retrospective analysis was performed for related data of 15 patients with RR-MADD caused by ETFDH mutation who were diagnosed in our hospital from2009 to 2019.Results The 15 patients had a mean age of onset of 32.1 ± 13.6 years and had the initial symptom of limb weakness,among whom 53.3% had weakness in all extremities and 46.7% had weakness in both lower limbs.All patients had increases in muscle enzymes,and electromyography showed myogenic damage in 80% of the patients,myogenic and neurogenic damage in 13.3% of the patients,and normal results in 6.7% of the patients.The positive rates of blood and urine mass spectrometry were 66.7% and 22.2%,respectively.Gene detection showed that all patients had mutations at different loci of the ETFDH gene,among whom 40% had single heterozygous mutations,40% had compound heterozygous mutations,and 20% had homozygous mutations.Conclusions This disease mainly manifests as fluctuating muscle weakness and elevated muscle enzymes.Muscle pathological examination should be performed for such patients as soon as possible,and a combination of blood and urine metabolic screening and gene detection may help with early diagnosis and timely treatment of such patients.更多还原