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本文引用的文献

1
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (MADD) with a novel mutation in ETFDH gene.一例迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症(MADD),ETFDH基因存在新突变。
J Neurol Sci. 2015;353(1-2):84-6. doi: 10.1016/j.jns.2015.04.011. Epub 2015 Apr 17.
2
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.由于多种酰基辅酶A脱氢酶缺乏引起的暴发性脂质贮积性肌病。
Muscle Nerve. 2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.
3
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients.13例核黄素反应性多种酰基辅酶A脱氢酶缺乏症及中国大陆患者文献综述
J Hum Genet. 2014 May;59(5):256-61. doi: 10.1038/jhg.2014.10. Epub 2014 Feb 13.
4
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.90例中国晚发性多种酰基辅酶A脱氢酶缺乏症患者的临床特征及ETFDH基因突变谱
J Inherit Metab Dis. 2014 May;37(3):399-404. doi: 10.1007/s10545-013-9671-6. Epub 2013 Dec 20.
5
A case of late-onset riboflavin responsive multiple acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH gene.一例迟发性核黄素反应性多种酰基辅酶A脱氢酶缺乏症伴ETFDH基因新突变
CNS Neurosci Ther. 2012 Nov;18(11):952-4. doi: 10.1111/cns.12007.
6
Measures of adult and juvenile dermatomyositis, polymyositis, and inclusion body myositis: Physician and Patient/Parent Global Activity, Manual Muscle Testing (MMT), Health Assessment Questionnaire (HAQ)/Childhood Health Assessment Questionnaire (C-HAQ), Childhood Myositis Assessment Scale (CMAS), Myositis Disease Activity Assessment Tool (MDAAT), Disease Activity Score (DAS), Short Form 36 (SF-36), Child Health Questionnaire (CHQ), physician global damage, Myositis Damage Index (MDI), Quantitative Muscle Testing (QMT), Myositis Functional Index-2 (FI-2), Myositis Activities Profile (MAP), Inclusion Body Myositis Functional Rating Scale (IBMFRS), Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI), Cutaneous Assessment Tool (CAT), Dermatomyositis Skin Severity Index (DSSI), Skindex, and Dermatology Life Quality Index (DLQI).成人及青少年皮肌炎、多发性肌炎和包涵体肌炎的评估指标:医生及患者/家长整体活动度、徒手肌力测试(MMT)、健康评估问卷(HAQ)/儿童健康评估问卷(C-HAQ)、儿童肌炎评估量表(CMAS)、肌炎疾病活动评估工具(MDAAT)、疾病活动评分(DAS)、简明健康状况调查问卷(SF-36)、儿童健康问卷(CHQ)、医生整体损伤程度、肌炎损伤指数(MDI)、定量肌肉测试(QMT)、肌炎功能指数-2(FI-2)、肌炎活动概况(MAP)、包涵体肌炎功能评定量表(IBMFRS)、皮肤型皮肌炎疾病面积和严重程度指数(CDASI)、皮肤评估工具(CAT)、皮肌炎皮肤严重程度指数(DSSI)、皮肤指数及皮肤病生活质量指数(DLQI)。
Arthritis Care Res (Hoboken). 2011 Nov;63 Suppl 11(0 11):S118-57. doi: 10.1002/acr.20532.
7
Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A.对来自中国南方的 51 个无关联家系的迟发性多发性酰基辅酶 A 脱氢酶缺乏症(MADD)进行分子分析,证实最常见的 ETFDH 突变和 c.250G>A 的高携带者频率。
J Mol Med (Berl). 2011 Jun;89(6):569-76. doi: 10.1007/s00109-011-0725-7. Epub 2011 Feb 24.
8
The electron transfer flavoprotein: ubiquinone oxidoreductases.电子传递黄素蛋白:泛醌氧化还原酶
Biochim Biophys Acta. 2010 Dec;1797(12):1910-6. doi: 10.1016/j.bbabio.2010.10.007. Epub 2010 Oct 16.
9
Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.一名患有核黄素反应性多种酰基辅酶A脱氢酶缺乏症的青少年患者的中枢神经系统和肌肉受累情况。
Brain Dev. 2010 Sep;32(8):669-72. doi: 10.1016/j.braindev.2009.08.008. Epub 2009 Sep 26.
10
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations.由 ETFDH 基因突变引起的反应性脂质贮积性肌病。
J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):231-6. doi: 10.1136/jnnp.2009.176404. Epub 2009 Sep 15.

一项关于糖皮质激素和核黄素对晚发性多种酰基辅酶A脱氢酶缺乏症患者疗效的历史性队列研究。

A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.

作者信息

Liu Xin-Yi, Wang Zhi-Qiang, Wang Dan-Ni, Lin Min-Ting, Wang Ning

机构信息

Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.

出版信息

Chin Med J (Engl). 2016 Jan 20;129(2):142-6. doi: 10.4103/0366-6999.173438.

DOI:10.4103/0366-6999.173438
PMID:26830983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4799539/
Abstract

BACKGROUND

Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common type of lipid storage myopathies in China. Most patients with late-onset MADD are well responsive to riboflavin. Up to now, these patients are often treated with glucocorticoids as the first-line drug because they are misdiagnosed as polymyositis without muscle biopsy or gene analysis. Although glucocorticoids seem to improve the fatty acid metabolism of late-onset MADD, the objective evaluation of their rationalization on this disorder and comparison with riboflavin treatment are unknown.

METHODS

We performed a historical cohort study on the efficacy of the two drugs among 45 patients with late-onset MADD, who were divided into glucocorticoids group and riboflavin group. Detailed clinical information of baseline and 1-month follow-up were collected.

RESULTS

After 1-month treatment, a dramatic improvement of muscle strength was found in riboflavin group (P < 0.05). There was no significant difference in muscle enzymes between the two groups. Significantly, the number of patients with full recovery in glucocorticoids group was less than the number in riboflavin group (P < 0.05). On the other hand, almost half of the patients in riboflavin group still presented high-level muscle enzymes and weak muscle strength after 1-month riboflavin treatment, meaning that 1-month treatment duration maybe insufficient and patients should keep on riboflavin supplement for a longer time.

CONCLUSIONS

Our results provide credible evidences that the overall efficacy of riboflavin is superior to glucocorticoids, and a longer duration of riboflavin treatment is necessary for patients with late-onset MADD.

摘要

背景

晚发型多种酰基辅酶A脱氢酶缺乏症(MADD)是中国最常见的脂质贮积性肌病类型。大多数晚发型MADD患者对核黄素反应良好。到目前为止,这些患者常被误诊为多发性肌炎而未进行肌肉活检或基因分析,因此常将糖皮质激素作为一线药物进行治疗。尽管糖皮质激素似乎能改善晚发型MADD的脂肪酸代谢,但其对该疾病治疗合理性的客观评估以及与核黄素治疗的比较尚不清楚。

方法

我们对45例晚发型MADD患者进行了一项关于这两种药物疗效的历史性队列研究,将患者分为糖皮质激素组和核黄素组。收集了基线和1个月随访时的详细临床信息。

结果

治疗1个月后,核黄素组患者肌力有显著改善(P<0.05)。两组肌肉酶水平无显著差异。值得注意的是,糖皮质激素组完全康复的患者数量少于核黄素组(P<0.05)。另一方面,核黄素组近一半患者在接受1个月核黄素治疗后仍存在肌肉酶水平高和肌力弱的情况,这意味着1个月的治疗时间可能不足,患者应继续补充核黄素更长时间。

结论

我们的结果提供了可靠证据,表明核黄素的总体疗效优于糖皮质激素,晚发型MADD患者需要更长时间的核黄素治疗。