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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 the clinical characteristics of patients with optic neuritis and its correlation with human leukocyte antigen (HLA). Methods The clinical data of 42 patients with optic neuritis were collected. HLA-DRB1 allelic typing was performed by flow cytomegalovirus-reverse-sequence-specific oligonucleotide probe technique. Results Of the 42 patients, 2 male patients were excluded as Leber’s hereditary optic neuropathy based on the gene test results. 31 patients had rotational ophthalmoplegia. The visual field lesions of 17 eyes were diversified. 20 cases of brain MR examination showed abnormal spots of multiple white spots and focal lesions in the white matter of the brain. Thirty-eight cases of optic nerve STIR were detected in 26 cases (68.4%) of optic nerve signal abnormalities and 26 cases of patients 21 cases (80.8%) had inflammatory demyelination; 29 cases (72.5%) had abnormal MR and cerebrospinal fluid; HLA-DRB1 * 15 gene frequency Frequency = number of genotypes / total number of cases) accounted for 35.0%, which was significantly different from the control group (19.4%) (χ2 = 4.2328, P = 0.0397) Group analysis found that 26 cases of female patients HLA-DRB1 * 15 gene frequency accounted for 42 · 3%, compared with the control group, the difference was statistically significant (χ2 = 6 4260, P = 0.0113, RR = 2.18 ). The frequency of HLA-DRB1 * 15 gene in patients with cerebrospinal fluid abnormalities was significantly higher than that in normal subjects (χ2 = 4.4499, P = 0.0349). However, the frequency of HLA-DRB1 * Frequency of onset, cranial MR findings and optic nerve No abnormalities unrelated; patients with acute sensitivity to high-dose methylprednisolone or human immunoglobulin therapy. Conclusion Most patients with optic neuritis have clinical features of inflammatory demyelinating disease. HLA-DRB1 * 15 gene may be a genetic predisposition to some optic neuritis in women.