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小儿多发性硬化症:最新进展。

Pediatric Multiple Sclerosis: an Update.

机构信息

Pediatric Multiple Sclerosis and Demyelinating Disorders Clinic, Division of Pediatric Neurology, Department of Neurology, Wake Forest University/Brenner Children's Hospital, Medical Center Boulevard, JT9, Winston Salem, NC, 27157, USA.

Children's Hospital of Philadelphia, Philadelphia, PA, USA.

出版信息

Curr Neurol Neurosci Rep. 2018 Sep 18;18(11):76. doi: 10.1007/s11910-018-0886-7.

Abstract

PURPOSE OF REVIEW

Diagnostic criteria for pediatric-onset multiple sclerosis (POMS) and related demyelinating disorders have been updated, neuroimaging studies have revealed new insights, biological assays identify patients with specific antibodies that influence both diagnosis and treatment, clinical trials are informing on treatment efficacy and safety, and longitudinal studies of neurological, cognitive and quality of life outcomes are informing on the impact of these diseases. We provide updates to assist providers caring for these children.

RECENT FINDINGS

The recent 2017 McDonald Criteria for MS provide a simplified means to confirm diagnosis at onset and over time, and have been shown to be equally applicable for POMS. MRI analyses demonstrate that brain volume is reduced at onset, and that both volumetric and tissue integrity measures decline over time, indicating that POMS shares the degenerative aspects that also characterize adult-onset disease. The presence of myelin oligodendrocyte glycoprotein (MOG) antibodies at onset is detected in more than 50% of children with acute disseminated encephalomyelitis. When persistent over time, they are associated with relapsing disease. The first randomized clinical trials of disease supports superiority of fingolimod over subcutaneous interferon beta 1a, and demonstrated a favorable safety profile. Finally, while Expanded Disability Status Scale (EDSS) scores remain low in the first 10 years post-onset, POMS is associated with high rates of patient-reported fatigue and reduced engagement in exercise and carries a risk for cognitive impairment. The past 15 years have borne witness to a marked expansion in recognition and research in POMS. There are now more specific diagnostic criteria, antibodies to CNS proteins appear to define diagnostically distinct disorders, clinical trials have successfully launched and one has completed, and we are gaining increasing appreciation of the impact of MS and related disorders on the lived experience of children and adolescents.

摘要

目的综述

儿科多发性硬化症(POMS)和相关脱髓鞘疾病的诊断标准已经更新,神经影像学研究揭示了新的见解,生物检测鉴定出具有特定抗体的患者,这些抗体影响诊断和治疗,临床试验提供了关于治疗效果和安全性的信息,纵向研究神经、认知和生活质量结局提供了这些疾病影响的信息。我们提供更新信息以帮助治疗这些儿童的医生。

最近的发现

最近 2017 年 McDonald 多发性硬化症标准为确诊提供了一种简化的方法,并且适用于 POMS。MRI 分析表明,大脑体积在发病时减少,并且体积和组织完整性测量值随时间推移而下降,这表明 POMS 具有与成人发病疾病相同的退行性特征。在急性播散性脑脊髓炎患者中,超过 50%的患者在发病时检测到少突胶质细胞髓鞘糖蛋白(MOG)抗体。当持续存在时,它们与复发性疾病有关。首批多发性硬化症的随机临床试验支持芬戈莫德优于皮下干扰素β 1a,并且具有良好的安全性。最后,虽然发病后 10 年内扩展残疾状态量表(EDSS)评分仍然较低,但 POMS 与高比例的患者报告疲劳和减少运动参与以及认知障碍风险相关。过去 15 年见证了 POMS 的认识和研究的显著扩展。现在有更具体的诊断标准,中枢神经系统蛋白的抗体似乎定义了具有诊断意义的不同疾病,临床试验已经成功启动并完成了一项,我们越来越了解多发性硬化症和相关疾病对儿童和青少年生活体验的影响。

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