Lai Chun-tao, Li Wei, Sun Yan-bin, Meng Chao, Chi Ke-mei, Lu Chang-feng, Yu Hua-feng, Zhang Zhi-xin
Department of Neurology, Tongren Hospital, Capital University of Medical Science, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2006 Jun;42(6):501-6.
To investigate clinical characteristics of optic neuritis and its association with HLA (human leukocyte antigen).
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.
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 CSF examination. The rate of HLA-DRB1()15 in the patients (35.0%) was much higher than control (19.4%), (chi(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.
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.
探讨视神经炎的临床特征及其与人类白细胞抗原(HLA)的相关性。
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(PCR-rSSOP)法检测HLA-DRB1基因型。
基因测序确诊为Leber遗传性视神经病变的2例患者被排除在研究之外。视神经炎患者中31/40有疼痛主诉。视野缺损因人而异,17例患者中有7例出现中心及旁中心暗点。40例视神经炎患者中,20例(50.0%)磁共振扫描显示脑白质多发病灶。38例患者中有26例短反转恢复序列(STIR)信号增强。21例患者(80.8%)脑脊液中发现炎性脱髓鞘改变。29例(72.5%)患者经磁共振成像(MRI)和/或脑脊液检查发现脑部异常。患者中HLA-DRB1()15的频率(35.0%)远高于对照组(19.4%),(χ² = 4.2328,P = 0.0397)。26例女性患者中HLA-DRB1()15的频率显著增加。HLA-DRB1(*)15频率增加与脑脊液异常有关,与发病时间、脑部磁共振改变及视神经信号增强无关。急性视神经炎对静脉注射大剂量甲泼尼龙或免疫球蛋白反应良好。
多数视神经炎表现为临床炎性脱髓鞘疾病。HLA-DRB1(*)15可能与女性视神经炎患者的遗传易感性相关。