Abstract: Objective  To investigate the clinical features of multiple sclerosis (MS) patients with positive serum aquaporin 4 (AQP4) antibody.  Methods  A total of 18 MS patients who had been diagnosed in accord with McDonald Criteria (2010) were enrolled and were divided into AQP4 positive group (N = 5) and AQP4 negative group (N = 13). In combination with accessory examination, clinical features and laboratory data of MS patients were correlatively studied between 2 groups in association with follow-up study in Outpatient Clinic.  Results  Five seropositive patients, including 2 men and 3 women, were collected. The median age of onset was 43 years and the median clinical course was 4 months. Compared with patients with negative AQP4 antibody, MS patients with positive AQP4 antibody demonstrated increased spinal cord lesions and optic nerve involvement. MRI revealed multiple abnormal long T₁ and long T₂ signals in brain and cervicothoracic spinal cord (3/5), and multiple  abnormal long T₁ and long T₂ signals in cervicothoracic spinal cord (2/5) in seropositive group. Relatively more patients in seropositive group had increased cerebral spinal fluid (CSF) IgG index (4/4) and 24 h intrathecal IgG synthesis rate (3/4), and positive oligoclonal bands (OBs, 3/4). Two patients presented with positive anti-nuclear antibody (ANA) and one Sjögren's syndrome (SS) in seropositive group.  Conclusions  There were some differences in clinical features between AQP4 antibody positive MS and classical MS, suggesting distinctive pathogenesis may exist between these two entities, which need to be emphasized and treated accordingly from the diagnostic and therapeutic points of view.

Key words: Multiple sclerosis, Aquaporins

摘要： 目的 分析水通道蛋白4（AQP4）抗体阳性多发性硬化的临床特征。方法 共18 例多发性硬化患者，均符合McDonald 诊断标准（2010 年版），分为AQP4 抗体阳性组（5 例）和AQP4 抗体阴性组（13 例），并门诊随访。结果 5 例AQP4 抗体阳性多发性硬化患者，男性2 例、女性3 例，中位发病年龄43 岁，中位病程4 个月；脊髓病变和视神经受累常见；MRI显示脑组织广泛多发性长T₁、长T₂异常信号伴颈胸髓长T₁、长T₂ 异常信号（3/5 例）或单纯颈胸髓多发性长T₁、长T₂ 异常信号（2/5 例）；脑脊液IgG 指数（4/4 例）、24 h IgG 鞘内合成率（3/4 例）升高，寡克隆区带阳性（3/4 例）；血清抗核抗体阳性（2/5 例）或合并干燥综合征（1/5 例）。结论 AQP4 抗体阳性多发性硬化有其特异性，发病机制可能与经典多发性硬化不同，在临床诊断与治疗时需加以重视并区别处理。

关键词: 多发性硬化, 水孔蛋白质类