水通道蛋白4抗体阳性儿童视神经炎的临床特征和预后分析

目的观察水通道蛋白4(AQP4)抗体阳性儿童视神经炎(AQP4-PON)的临床、影像学特征和预后。方法回顾性病例系列研究。2015年1月至2018年12月于解放军总医院第一医学中心眼科确诊的AQP4-PON患儿14例23只眼纳入研究。所有患儿均行BCVA、眼底彩色照相、眼眶MRI检查;行OCT检查10例15只眼,测量患眼视盘周围神经纤维层(pRNFL)、黄斑区节细胞层+内丛状层(mGCIPL)厚度。采用基于细胞的间接荧光免疫法检测血清AQP4抗体和髓鞘少突胶质细胞糖蛋白抗体。随访时间28~59个月。分析患儿临床特征、神经影像学特征及预后情况。结果14例患儿中,男性2例(14.3%),女性12例(85.7%)。平均发病年龄(13.3±3.0)岁。首次发病时,单眼10例,双眼4例。表现为视神经炎11例(78.6%),极后区综合征2例(14.3%),脊髓炎1例(7.1%)。伴眼痛10例(71.4%),同时合并自身抗体阳性5例(35.7%)。首次发病时间<2周时,眼底检查可见视盘水肿7只眼(38.9%)。发病时间3个月时,行OCT检查的15只眼,平均pRNFL、mGCIPL厚度分别为(62.33±11.07)、(54.17±5.42)μm。眼眶MRI检查结果显示,视神经呈长T2信号14例(100.0%),伴有T1强化病灶11例(78.6%)。首次发病时间<2周时,BCVA≤0.1者16只眼(88.9%),经糖皮质激素治疗后BCVA≤0.1者7只眼(38.9%),≥0.5者9只眼(50.0%)。随访过程中出现复发11例,加用免疫抑制剂治疗。末次随访时,14例中,累及双眼9例(64.3%,9/14),进展为视神经脊髓炎5例(35.7%,5/14);23只眼中,BCVA≥0.5者8只眼(34.8%,8/23)。结论AQP4-PON以女性患儿多见;视功能受损严重,易复发;部分患儿可进展为视神经脊髓炎。

Clinical features and prognosis of aquaporin-4 antibody positive pediatric optic neuritis

Objective To observe the clinical,radiographic features and prognosis of aquaporin-4 antibody positive pediatric optic neuritis(AQP4-PON).Methods A retrospective case series.Twenty-three eyes of 14 children with AQP4-PON who were clinically confirmed in the Department of Ophthalmology of the First Medical Center of the Chinese PLA General Hospital from January 2015 to December 2018 were included in the study.All patients underwent BCVA,fundus color photography,and magnetic resonance imaging(MRI).OCT was performed on 15 eyes of 10 patients,and the peripapillary retinal nerve fiber layers(pRNFL),macular ganglion cell-inner plexiform layers(mGCIPL)thickness of the affected eyes were measured.Cell-based indirect fluorescent immunoassay was used to detect serum AQP4 antibodies and myelin oligodendrocyte glycoprotein antibodies.The follow-up time ranged from 28 to 59 months.The clinical,neuroimaging characteristics and prognosis of the children were analyzed.Results Among 14 children,2 were male(14.3%)and 12 were female(85.7%).The mean age of onset was 13.3±3.0 years.On the first visit,there were 10 unilateral patients and 4 bilateral patients.The first manifestations were 11 patients of optic neuritis(78.6%),2 patients of posterior pole syndrome(14.3%),and 1 patient of myelitis(7.1%).There were 10 patients(71.4%)with eye pain,and 5 patients(35.7%)combined with autoantibodies positive.When the first onset time was less than 2 weeks,fundus examination revealed disc edema in 7 eyes(38.9%).After 3 months,the average pRNFL and mGCIPL thickness of 15 eyes underwent OCT examination were 62.33±11.07 and 54.17±5.42μm,respectively.Orbital MRI showed that the optic nerve showed a long T2 signal in 14 patients(100.0%)and 11 patients(78.6%)with T1 intensive lesions.When the first onset was less than 2 weeks,16 eyes(88.9%)had BCVA≤0.1,and 7 eyes(38.9%)had BCVA≤0.1 and 9 eyes(50.0%)with BCVA≥0.5 after glucocorticoid treatment.Recurrence occurred in 11 patients during follow-up and was treated with immunosuppressive agents.At the last visit,in 14 patients,9 eyes(64.3%)were involved in both eyes,and 5 patients(35.7%)progressed to neuromyelitis optica;in 23 eyes,8 eyes(34.8%)had BCVA≥0.5.Conclusions AQP4-PON patients are more common in women,severely impaired visual function,easy to relapse,and some patients will progress to neuromyelitis optica.