视神经炎患者临床特征及与人白细胞抗原的相关性研究  

Clinical characteristic of optic neuritis and its relevancy with human leukocyte antigen

作　　者：赖春涛[1] 李伟[2] 孙彦斌[1] 孟超[1] 赤克美[1] 陆长峰[1] 余华峰[1] 张志欣[2] 

机构地区：[1]首都医科大学附属北京同仁医院神经内科,100730 [2]北京市血液中心人白细胞抗原实验室

出　　处：《中华眼科杂志》2006年第6期501-506,共6页Chinese Journal of Ophthalmology

摘　　要：目的探讨视神经炎患者的临床特征及与人白细胞抗原(HLA)的相关性。方法收集42例视神经炎患者的临床资料,采用流式聚合酶链反应-反向序列特异性寡核苷酸探针技术,进行HLA-DRB1等位基因分型。结果42例患者中,2例男性患者依据基因检测结果确诊为Leber遗传性视神经病变而被排除;31例伴有转动性眼痛;17只眼视野损害呈多样化,中心暗点或旁中心暗点较多;20例脑MR检测显示脑白质区多发点、片状病灶为主的异常信号;38例行视神经STIR序列检测,显示26例(68·4%)视神经信号异常;26例患者行腰椎穿刺术,有21例(80·8%)脑脊液呈炎性脱髓鞘改变;脑MR异常和(或)脑脊液异常者29例(72·5%);HLA-DRB1*15基因频率(基因频率=某基因型的例数/总例数)占35·0%,与对照组(19·4%)相比,差异有统计学意义(χ2=4·2328,P=0·0397),分组分析发现26例女性患者中HLA-DRB1*15基因频率占42·3%,与对照组相比,差异有统计学意义(χ2=6·4260,P=0·0113,RR=2·18);脑脊液异常者HLA-DRB1*15基因频率增高,与正常者相比,差异有统计学意义(校正χ2=4·4499,P=0·0349);但HLA-DRB1*15基因频率高低与发病次数、头颅MR检测结果及视神经信号异常无关;急性期患者对大剂量甲泼尼龙或人免疫球蛋白治疗敏感。结论大部分视神经炎患者具有炎性脱髓鞘疾病的临床特征;HLA-DRB1*15基因可能是部分女性视神经炎患者的遗传易感基因。Objective To investigate clinical characteristics of optic neuritis and its association with HLA（ human leukocyte antigen ）. Method The clinical data of 42 patients with optic neuritis were collected and flow polymerase chain reaction- reverse sequence specific oligonucleotide probe （PCR-rSSOP） was used to determine the genotype of HLA-DRB1. Results Two patients confirmed as Leber hereditary optic neuropathy by gene sequencing were excluded from the study. The complaint of pain was found in the patients （31/40） of optic neuritis. The visual field defect varied with patients and central and pericentral scotoma were demonstrated in 7 patients of 17. Of 40 patients with optic neuritis, 20 （50. 0% ） showed multifocal brain lesions in white matter by MR scanning. 26 of 38 patients had increased STIR signals. Inflammatory demyelinating changes were found in cerebral spinal fluid in 21 patients （80. 8% ）. Out of demonstrated brain abnormal was revealed in 29 （72. 5 % ） patients using MRI and/or CSFexamination. The rate of HLA-DRB1^＊ 15 in the patients （35.0%） was much higher than control （ 19. 4% ）, （ X^2 =4. 2328, P =0. 0397）. Frequencies of HLA-DRB1^＊ 15 increased significantly in 26 female patients. The increased frequencies of HLA-DRB1^＊ 15 were associated with CSF abnormality and no relevancy was found with onset times, brain MR changes and increase of optic nerve signals. Acute optic neuritis responded well to intravenous megadose of methylprednisolone or immunoglobulin. Conclusions Most of optic neuritis was characterized as clinical inflammatory demyelinating disease. HLA-DRB1^＊ 15 might correlated with genetic susceptibility of female patients with optic neuritis. （Chin J Ophthalmol, 2006, 42： 501-506）

关 键 词：视神经炎 HLA-DR抗原 疾病遗传易感性 脱髓鞘疾病 

分 类 号：R774.6[医药卫生—眼科]