目的:过度兴奋的周围神经疾病(HPND)是罕见的。尽管他们的临床和实验室特征已经得到了很好的研究,有关治疗和随访的信息有限.本研究的目的是探索长期的临床,调查,以及获得性HPND患者的治疗概况。
方法:本研究回顾性分析了来自单一三级护理中心的HPND患者(2012年1月至2022年1月)。根据公布的纳入和排除标准招募患者。详细的临床特征,诊断测试,治疗性干预措施,并记录随访情况。这项研究包括随访2年或更长时间的患者。
结果:共研究了32例患者(M=26,F=6)。常见的临床特征包括肌电异常,神经性或休克样疼痛,抽筋,睡眠障碍,脑病,小脑共济失调,和癫痫发作。共有81.25%的患者对皮质类固醇和膜稳定剂反应良好。在无应答者中,5人接受静脉注射免疫球蛋白(IVIG),1人接受血浆置换(PLEX)。由于对上述治疗的反应较差,两名患者需要利妥昔单抗。从治疗开始起,响应的平均持续时间为6周(4-24周)。所有患者都有良好的结果,在开始治疗后的1-5年内达到临床缓解。只有两名患者复发。78%的患者在3年内可以停止免疫治疗,5年内可以停止100%的免疫治疗。
结论:从皮质类固醇开始的慢性免疫抑制是HPND的满意结果所必需的。这些疾病通常是单相的,复发并不常见。
OBJECTIVE: Hyperexcitable peripheral nerve disorders (HPNDs) are rare. Although their clinical and laboratory features have been well studied, information on treatment and follow-up is limited. The aim of this study is to explore the long-term clinical, investigative, and therapeutic profile of patients with acquired HPNDs.
METHODS: This study retrospectively analyzed patients from a single tertiary care center with HPND (January 2012 to January 2022). Patients were recruited according to published inclusion and exclusion criteria. Details of clinical features, diagnostic tests, therapeutic interventions, and follow-up were recorded. This study included patients with follow-up of 2 or more years.
RESULTS: A total of 32 patients (M = 26, F = 6) were studied. The common clinical features included myokymia, neuropathic or shock-like pain, cramps, sleep disturbances, encephalopathy, cerebellar ataxia, and seizures. A total of 81.25% of patients responded favorably to corticosteroids and membrane stabilizers. Among the nonresponders, five received intravenous immunoglobulin (IVIG), and one received plasma exchange (PLEX). Two patients required rituximab due to poor responses to the above treatments. The mean duration of response was 6 weeks (4-24 weeks) from the initiation of treatment. All patients had favorable outcomes, reaching clinical remission within 1-5 years from the initiation of treatment. Only two patients had relapses. Immunotherapy could be stopped in 78% of patients within 3 years and 100% by 5 years.
CONCLUSIONS: Chronic immunosuppression starting with corticosteroids is required for satisfactory outcomes of HPNDs. These disorders usually run a monophasic course, and relapses are uncommon.