抗3-羟基-3-甲基戊二酰辅酶A还原酶坏死性肌病在一名儿童中伪装成肌营养不良。
Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child.
作者信息
Mohassel Payam, Foley A Reghan, Donkervoort Sandra, Fequiere Pierre R, Pak Katherine, Bönnemann Carsten G, Mammen Andrew L
机构信息
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Department of Pediatrics, Division of Pediatric Neurology, University of Alabama at Birmingham, Birmingham, Alabama, USA.
出版信息
Muscle Nerve. 2017 Dec;56(6):1177-1181. doi: 10.1002/mus.25567. Epub 2017 Apr 25.
INTRODUCTION
Immune-mediated necrotizing myopathies (IMNMs) are characterized by progressive weakness, elevated serum creatine kinase levels, and necrotizing myopathic features on muscle biopsy. Presence of highly specific autoantibodies against signal recognition particle (SRP) or 3-hydroxy-3-methylglutaryl- coenzyme A reductase (HMGCR) can aid in recognition and confirmation of IMNMs.
METHODS
In this study we describe a boy with HMGCR-positive necrotizing myopathy and highlight the clinical features of the patient.
RESULTS
In contrast to most adults, the patient described had a more indolent disease course, reminiscent of a muscular dystrophy. Intravenous immunoglobulin monotherapy resulted in a dramatic clinical response with return to normal strength.
CONCLUSIONS
Systematic consideration of IMNMs and testing for relevant autoantibodies in children with suspected but genetically unconfirmed muscular dystrophy may help improve diagnostic accuracy and allow timely treatment with potentially highly effective immunotherapies. Muscle Nerve 56: 175-179, 2017.
引言
免疫介导的坏死性肌病（IMNMs）的特征是进行性肌无力、血清肌酸激酶水平升高以及肌肉活检显示坏死性肌病特征。存在针对信号识别颗粒（SRP）或3-羟基-3-甲基戊二酰辅酶A还原酶（HMGCR）的高度特异性自身抗体有助于识别和确诊IMNMs。
方法
在本研究中，我们描述了一名患有HMGCR阳性坏死性肌病的男孩，并突出了该患者的临床特征。
结果
与大多数成年人不同，该患者的病程较为隐匿，类似于肌肉营养不良症。静脉注射免疫球蛋白单一疗法产生了显著的临床反应，肌力恢复正常。
结论
对于疑似但基因未确诊的肌肉营养不良症患儿，系统考虑IMNMs并检测相关自身抗体可能有助于提高诊断准确性，并能及时采用可能高效的免疫疗法进行治疗。《肌肉与神经》56: 175 - 179, 2017年。
Zotero 插件