视神经炎的临床特点及与载脂蛋白E基因多态性的关系
发布时间：2018-09-07 19:43
【摘要】：【研究目的】 探讨视神经炎的临床特点以及载脂蛋白E(ApoE)基因多态性对原发脱髓鞘性视神经炎的影响。 【研究方法】 回顾分析2010年1月1日-2011年10月1日就诊于我院的186例视神经炎患者的性别、年龄、症状、体征、检验结果、头颅核磁、VEP和视野等检查结果，病例回顾+电话随访首次发病的最差视力、发病1周、一月和半年后的视力（以上视力均为最佳矫正视力）；选取134例原发脱髓鞘性视神经炎的患者，提取其静脉血DNA，用snapshot法进行ApoE基因多态性的检测,采用SPSS17.0统计软件进行数据分析。 【研究结果】 1.一共有186例视神经炎的患者，平均年龄33.98±14.66岁；男性63例，女性123例。186例患者中多发性硬化(MS)11例;视神经脊髓炎(NMO)10例；孤立性视神经炎(IsolatedON)134例；自身免疫相关性视神经炎(AON)19例；感染性视神经炎(ION)12例。 2.首次发病时，共186眼最差视力≤0.05,视神经炎的各组比较后差异无统计学意义(P＞0.05),半年后共132眼视力＞0.5，各组比较后发现MSON组和ION组以及单RION组和ION组间的差异有统计学意义(P＜0.05)。 3.急性期（≤1月）有125眼，其中视盘水肿有52眼，AON组较其他组容易发生视盘水肿（P＜0.05）。 4.共163例行头颅核磁检查,脱髓鞘34例,视神经异常20例,脑实质脱髓鞘16例。 5.共134例行AQP4检查，，阳性有31例，MS的检出率为50%,NMO为57.14%，IsolatedON为12.61%，AON为60.00%，ION未检出。AON的检出率比IsolatedON高（P≤0.05）。 6.共67例孤立性视神经炎患者行Torch检测,IgM阳性的有24例（35.82%）。 7.共77人测抗核抗体谱,16例为阳性（占20.78%）。AON的19例中,无明确全身系统自身免疫性疾病、血清学检查阳性的有13例，有明确全系统免疫性疾病的有6例。 8.在141例原发性脱髓鞘性视神经炎患者中,ApoE基因型依次为：E2E2有0例,E3E3有96例,E4E4有1例,E2E3有17例,E3E4有25例,E2E4有2例,其等位基因的个数依次为：ε2有19个；ε3的有234个；ε4有29个。携带ε4等位基因的眼与不携带ε4等位基因的眼其首次发病时最差视力的程度不一致(P＜0.05),发病半年后视力的差别显著不一致(P＜0.01),前者视力≤0.05的比例高于后者。前者双眼发病有18例，后者双眼发病有57例。前者眼痛13眼，无眼痛15眼，后者眼痛53眼，无眼痛60眼。急性期中，前者视乳头水肿12眼，无水肿19眼，后者视乳头水肿33眼，无水肿56眼。以上三项差异均无统计学意义（P＞0.05）。 【研究结论】 1.发病年龄集中在青年,女性多见。孤立性视神经炎是ON最常见的类型，依次是AON、ION、MS和NMO。 2.首次发病时，各组视神经炎中最差视力≤0.05的比例无差别,半年后,MSON组和单RION组视力恢复至0.5的比例比ION组高。 3.核磁对于视神经异常的检出率仅为12.27%。 4.视神经炎患者的抗核抗体谱的检出率为20.78%，自身免疫性视神经炎的患者较其他类型更容易出现视盘水肿，其AQP4检出率较高。 5.孤立性视神经炎患者的Torch检测中IgM的检出率为35.82%，高于多个省市的健康人群普查结果，这些均可能与孤立性视神经炎的发生有关，需要进一步严格的临床对照试验。 6.在原发性脱髓鞘性视神经炎患者的首次发病中，携带ε4等位基因的眼与不携带的眼在最低视力和半年后的预后视力两个层面均不同(P＜0.05)，前者视力≤0.05的比例高于后者。前者视力的恢复率低于后者。是否携带ε4等位基因与是否双眼发病、眼痛和视乳头水肿均无关(P＞0.05)。
[Abstract]:[research purposes]
Objective To investigate the clinical features of optic neuritis and the effect of apolipoprotein E (ApoE) gene polymorphism on primary demyelinating optic neuritis.
[research methods]
A retrospective analysis of 186 patients with optic neuritis admitted to our hospital from January 1, 2010 to October 1, 2011 was made on their sex, age, symptoms, physical signs, test results, cranial magnetic resonance, VEP and visual field. Case review plus telephone follow-up showed the worst visual acuity at the first onset. Visual acuity was the best corrected visual acuity at 1 week, 1 month and 6 months after onset. Methods: 134 patients with primary demyelinating optic neuritis were selected and their venous blood DNA was extracted. ApoE gene polymorphism was detected by snapshot method, and the data were analyzed by SPSS17.0 statistical software.
[results]
1. A total of 186 patients with optic neuritis, with an average age of 33.98 + 14.66 years, 63 males and 123 females, were enrolled in this study. Among the 186 patients, 11 had multiple sclerosis (MS), 10 had optic neuromyelitis (NMO), 134 had isolated optic neuritis (Isolated ON), 19 had autoimmune associated optic neuritis (AON), and 12 had infectious optic neuritis (ION).
2. At the first onset, 186 eyes had the worst visual acuity of <0.05. There was no significant difference among the groups with optic neuritis (P > 0.05). After half a year, 132 eyes had visual acuity of > 0.5. The differences between MSON group and ION group, single RION group and ION group were statistically significant (P < 0.05).
3. There were 125 eyes in the acute stage (< 1 month). 52 eyes had optic disc edema. The AON group was more prone to optic disc edema than other groups (P < 0.05).
4. a total of 163 cases underwent cranial magnetic resonance examination, 34 cases had demyelination, 20 cases had optic nerve abnormalities, and 16 cases had demyelination of brain parenchyma.
5. A total of 134 cases were examined by AQP4. The positive rate of MS was 50%, NMO was 57.14%, Isolated ON was 12.61%, AON was 60.00%, ION was not detected. The detection rate of AON was higher than Isolated ON (P < 0.05).
6. a total of 67 patients with isolated optic neuritis underwent Torch test and 24 patients (35.82%) were positive for IgM.
7. A total of 77 people tested the spectrum of anti-nuclear antibodies, 16 cases were positive (20.78%). Among 19 cases of AON, there were no definite systemic autoimmune diseases, 13 cases were serologically positive, and 6 cases were definite systemic immune diseases.
8. Among 141 patients with primary demyelinating optic neuritis, the ApoE genotypes were E2E2 in 0 cases, E3E3 in 96 cases, E4E4 in 1 case, E2E3 in 17 cases, E3E4 in 25 cases, E2E4 in 2 cases. The number of alleles was in turn: epsilon 2 in 19 cases, epsilon 3 in 234 cases, epsilon 4 in 29 cases. The worst visual acuity at the first onset was not consistent (P < 0.05). The difference of visual acuity six months after onset was significantly different (P < 0.01). The proportion of visual acuity < 0.05 in the former was higher than that in the latter. There were 12 eyes with head edema, 19 eyes without edema, 33 eyes with optic papilla edema and 56 eyes without edema.
[Conclusion]
1. The age of onset was concentrated in young people and was more common in women. Solitary optic neuritis was the most common type of ON, followed by AON, ION, MS and NMO.
2. At the first onset, there was no difference in the proportion of the worst visual acuity <0.05 in each group. After half a year, the proportion of visual acuity restored to 0.5 in MSON group and single RION group was higher than that in ION group.
3. the detection rate of NMR for optic nerve abnormalities is only 12.27%.
4. The detection rate of anti-nuclear antibody spectrum in patients with optic neuritis was 20.78%. Patients with autoimmune optic neuritis were more likely to have optic disc edema than other types, and the detection rate of AQP4 was higher.
5. The detection rate of IgM in Torch test of patients with isolated optic neuritis was 35.82%, which was higher than that of healthy people in many provinces and cities. These results may be related to the occurrence of isolated optic neuritis and need further rigorous clinical controlled trials.
6. In the first onset of primary demyelinating optic neuritis, the prognostic visual acuity of the eyes with and without the allele was different at the lowest visual acuity and half a year later (P < 0.05). The proportion of the former with visual acuity less than 0.05 was higher than that of the latter. The recovery rate of visual acuity of the former was lower than that of the latter. Eye disease, eye pain and papillae edema were not related (P > 0.05).
【学位授予单位】：中国人民解放军军医进修学院
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R774.6
本文编号：2229235
[Abstract]:[research purposes]
Objective To investigate the clinical features of optic neuritis and the effect of apolipoprotein E (ApoE) gene polymorphism on primary demyelinating optic neuritis.
[research methods]
A retrospective analysis of 186 patients with optic neuritis admitted to our hospital from January 1, 2010 to October 1, 2011 was made on their sex, age, symptoms, physical signs, test results, cranial magnetic resonance, VEP and visual field. Case review plus telephone follow-up showed the worst visual acuity at the first onset. Visual acuity was the best corrected visual acuity at 1 week, 1 month and 6 months after onset. Methods: 134 patients with primary demyelinating optic neuritis were selected and their venous blood DNA was extracted. ApoE gene polymorphism was detected by snapshot method, and the data were analyzed by SPSS17.0 statistical software.
[results]
1. A total of 186 patients with optic neuritis, with an average age of 33.98 + 14.66 years, 63 males and 123 females, were enrolled in this study. Among the 186 patients, 11 had multiple sclerosis (MS), 10 had optic neuromyelitis (NMO), 134 had isolated optic neuritis (Isolated ON), 19 had autoimmune associated optic neuritis (AON), and 12 had infectious optic neuritis (ION).
2. At the first onset, 186 eyes had the worst visual acuity of <0.05. There was no significant difference among the groups with optic neuritis (P > 0.05). After half a year, 132 eyes had visual acuity of > 0.5. The differences between MSON group and ION group, single RION group and ION group were statistically significant (P < 0.05).
3. There were 125 eyes in the acute stage (< 1 month). 52 eyes had optic disc edema. The AON group was more prone to optic disc edema than other groups (P < 0.05).
4. a total of 163 cases underwent cranial magnetic resonance examination, 34 cases had demyelination, 20 cases had optic nerve abnormalities, and 16 cases had demyelination of brain parenchyma.
5. A total of 134 cases were examined by AQP4. The positive rate of MS was 50%, NMO was 57.14%, Isolated ON was 12.61%, AON was 60.00%, ION was not detected. The detection rate of AON was higher than Isolated ON (P < 0.05).
6. a total of 67 patients with isolated optic neuritis underwent Torch test and 24 patients (35.82%) were positive for IgM.
7. A total of 77 people tested the spectrum of anti-nuclear antibodies, 16 cases were positive (20.78%). Among 19 cases of AON, there were no definite systemic autoimmune diseases, 13 cases were serologically positive, and 6 cases were definite systemic immune diseases.
8. Among 141 patients with primary demyelinating optic neuritis, the ApoE genotypes were E2E2 in 0 cases, E3E3 in 96 cases, E4E4 in 1 case, E2E3 in 17 cases, E3E4 in 25 cases, E2E4 in 2 cases. The number of alleles was in turn: epsilon 2 in 19 cases, epsilon 3 in 234 cases, epsilon 4 in 29 cases. The worst visual acuity at the first onset was not consistent (P < 0.05). The difference of visual acuity six months after onset was significantly different (P < 0.01). The proportion of visual acuity < 0.05 in the former was higher than that in the latter. There were 12 eyes with head edema, 19 eyes without edema, 33 eyes with optic papilla edema and 56 eyes without edema.
[Conclusion]
1. The age of onset was concentrated in young people and was more common in women. Solitary optic neuritis was the most common type of ON, followed by AON, ION, MS and NMO.
2. At the first onset, there was no difference in the proportion of the worst visual acuity <0.05 in each group. After half a year, the proportion of visual acuity restored to 0.5 in MSON group and single RION group was higher than that in ION group.
3. the detection rate of NMR for optic nerve abnormalities is only 12.27%.
4. The detection rate of anti-nuclear antibody spectrum in patients with optic neuritis was 20.78%. Patients with autoimmune optic neuritis were more likely to have optic disc edema than other types, and the detection rate of AQP4 was higher.
5. The detection rate of IgM in Torch test of patients with isolated optic neuritis was 35.82%, which was higher than that of healthy people in many provinces and cities. These results may be related to the occurrence of isolated optic neuritis and need further rigorous clinical controlled trials.
6. In the first onset of primary demyelinating optic neuritis, the prognostic visual acuity of the eyes with and without the allele was different at the lowest visual acuity and half a year later (P < 0.05). The proportion of the former with visual acuity less than 0.05 was higher than that of the latter. The recovery rate of visual acuity of the former was lower than that of the latter. Eye disease, eye pain and papillae edema were not related (P > 0.05).
【学位授予单位】：中国人民解放军军医进修学院
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R774.6
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