1例青少年难治性视神经脊髓炎谱系疾病的诊治

doi:10.12372/jcp.2025.24e0688

摘要/Abstract

摘要：

探讨奥法妥木单抗（OFA）治疗难治性视神经脊髓炎谱系疾病（NMOSD）患者的可行性和有效性。患儿，女，15岁，血清水通道蛋白4抗体（AQP4-IgG）阳性多次复发的NMOSD，曾先后给予静脉注射甲基泼尼松龙琥珀酸钠、免疫球蛋白、利妥昔单抗（RTX），并口服醋酸泼尼松、吗替麦考酚酯治疗5年，9个月前开始间隔接受4剂OFA治疗（20 mg，皮下注射），观察患儿在OFA治疗的9个月期间NMOSD是否复发，血清AQP4-IgG抗体滴度，外周血B细胞水平以及头颅和脊髓MRI变化。患儿在OFA治疗的9个月期间症状稳定，无复发，血清AQP4-IgG滴度下降，复查头颅及脊髓MRI病灶减少，无新发病灶，耐受性好，无过敏反应或继发感染，除B细胞完全耗竭，未发现淋巴细胞减少或低丙种球蛋白血症。对于难治性NMOSD或其他免疫治疗不耐受的患儿，皮下注射OFA可能是一种安全有效的替代治疗。

关键词: 奥法妥木单抗, 水通道蛋白4抗体, 视神经脊髓炎谱系疾病, 难治性

Abstract:

To preliminarily explore the feasibility and effectiveness of olfatomuzumab (OFA) in the treatment of patients with refractory neuromyelitis optica spectrum disorder (NMOSD). A 15-year-old adolescent female with seropositive AQP4-IgG and multiple relapses of refractory neuromyelitis optica spectrum disorder was given intravenous methylprednisolone, immunoglobulin, rituximab (RTX), and oral prednisone and mycophenolate mofetil for 5 years. She started to receive 4 doses of OFA (20 mg, subcutaneous injection) at intervals 9 months ago. The patient was observed for NMOSD recurrence, serum AQP4-IgG antibody titer, peripheral blood B cell level, and changes in cranial and spinal cord MRI during the 9-month period of OFA treatment. The patient's symptoms were stable without recurrence during the 9-month period of OFA treatment. The serum AQP4-IgG titer decreased, and the lesions in the cranial and spinal cord MRI decreased. There were no new lesions, and the tolerance was good without anaphylactic reactions or infectious adverse events. In addition to complete depletion of B cells, no lymphopenia or hypogammaglobulinemia was found. For patients with refractory NMOSD or other intolerant to immunotherapy, subcutaneous injection of OFA may be a safe and effective alternative treatment.

Key words: ofatumumab, AQP4-IgG, neuromyelitis optica spectrum disorders, refractory

郑诺, 陈曼, 张冬丽, 刘晓鸣. 1例青少年难治性视神经脊髓炎谱系疾病的诊治[J]. 临床儿科杂志, 2025, 43(4): 301-305.

ZHENG Nuo, CHEN Man, ZHANG Dongli, LIU Xiaoming. Diagnosis and treatment of one case of refractory neuromyelitis optica spectrum disorder in adolescents[J]. Journal of Clinical Pediatrics, 2025, 43(4): 301-305.

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项目	2018年2月起病	2019年2月第一次复发	2021年3月第二次复发	2021年8月第三次复发	2023年12月第四次复发	OFA治疗后 3、6、8个月
临床表现	右眼视物有缺损，视力下降，眼球运动时疼痛	颈肩痛	右拇趾麻木感眼球活动时眼胀	日间睡眠增多咽部不适一过性低热	近期记忆力下降，头痛	无症状
影像表现	颅内多发异常信号右侧视神经增粗T6-T12及L1脊髓异常信号	颅内新发病灶	颅内旧病灶复发伴新发 T7-T10脊髓异常信号	颅内病灶增多右侧视神经增粗	颅内新发病灶	颅内病灶缩小
治疗	MPS、IVIG、MMF	MPS、IVIG、MMF	MPS、IVIG、RTX（过敏）	IVIG、PAT 、MMF	OFA、PAT、MMF	OFA