【摘要】：【研究目的】 探討視神經(jīng)炎的臨床特點以及載脂蛋白E(ApoE)基因多態(tài)性對原發(fā)脫髓鞘性視神經(jīng)炎的影響。 【研究方法】 回顧分析2010年1月1日-2011年10月1日就診于我院的186例視神經(jīng)炎患者的性別、年齡、癥狀、體征、檢驗結(jié)果、頭顱核磁、VEP和視野等檢查結(jié)果，病例回顧+電話隨訪首次發(fā)病的最差視力、發(fā)病1周、一月和半年后的視力（以上視力均為最佳矯正視力）；選取134例原發(fā)脫髓鞘性視神經(jīng)炎的患者，提取其靜脈血DNA，用snapshot法進行ApoE基因多態(tài)性的檢測,采用SPSS17.0統(tǒng)計軟件進行數(shù)據(jù)分析。 【研究結(jié)果】 1.一共有186例視神經(jīng)炎的患者，平均年齡33.98±14.66歲；男性63例，女性123例。186例患者中多發(fā)性硬化(MS)11例;視神經(jīng)脊髓炎(NMO)10例；孤立性視神經(jīng)炎(IsolatedON)134例；自身免疫相關(guān)性視神經(jīng)炎(AON)19例；感染性視神經(jīng)炎(ION)12例。 2.首次發(fā)病時，共186眼最差視力≤0.05,視神經(jīng)炎的各組比較后差異無統(tǒng)計學(xué)意義(P＞0.05),半年后共132眼視力＞0.5，各組比較后發(fā)現(xiàn)MSON組和ION組以及單RION組和ION組間的差異有統(tǒng)計學(xué)意義(P＜0.05)。 3.急性期（≤1月）有125眼，其中視盤水腫有52眼，AON組較其他組容易發(fā)生視盤水腫（P＜0.05）。 4.共163例行頭顱核磁檢查,脫髓鞘34例,視神經(jīng)異常20例,腦實質(zhì)脫髓鞘16例。 5.共134例行AQP4檢查，，陽性有31例，MS的檢出率為50%,NMO為57.14%，IsolatedON為12.61%，AON為60.00%，ION未檢出。AON的檢出率比IsolatedON高（P≤0.05）。 6.共67例孤立性視神經(jīng)炎患者行Torch檢測,IgM陽性的有24例（35.82%）。 7.共77人測抗核抗體譜,16例為陽性（占20.78%）。AON的19例中,無明確全身系統(tǒng)自身免疫性疾病、血清學(xué)檢查陽性的有13例，有明確全系統(tǒng)免疫性疾病的有6例。 8.在141例原發(fā)性脫髓鞘性視神經(jīng)炎患者中,ApoE基因型依次為：E2E2有0例,E3E3有96例,E4E4有1例,E2E3有17例,E3E4有25例,E2E4有2例,其等位基因的個數(shù)依次為：ε2有19個；ε3的有234個；ε4有29個。攜帶ε4等位基因的眼與不攜帶ε4等位基因的眼其首次發(fā)病時最差視力的程度不一致(P＜0.05),發(fā)病半年后視力的差別顯著不一致(P＜0.01),前者視力≤0.05的比例高于后者。前者雙眼發(fā)病有18例，后者雙眼發(fā)病有57例。前者眼痛13眼，無眼痛15眼，后者眼痛53眼，無眼痛60眼。急性期中，前者視乳頭水腫12眼，無水腫19眼，后者視乳頭水腫33眼，無水腫56眼。以上三項差異均無統(tǒng)計學(xué)意義（P＞0.05）。 【研究結(jié)論】 1.發(fā)病年齡集中在青年,女性多見。孤立性視神經(jīng)炎是ON最常見的類型，依次是AON、ION、MS和NMO。 2.首次發(fā)病時，各組視神經(jīng)炎中最差視力≤0.05的比例無差別,半年后,MSON組和單RION組視力恢復(fù)至0.5的比例比ION組高。 3.核磁對于視神經(jīng)異常的檢出率僅為12.27%。 4.視神經(jīng)炎患者的抗核抗體譜的檢出率為20.78%，自身免疫性視神經(jīng)炎的患者較其他類型更容易出現(xiàn)視盤水腫，其AQP4檢出率較高。 5.孤立性視神經(jīng)炎患者的Torch檢測中IgM的檢出率為35.82%，高于多個省市的健康人群普查結(jié)果，這些均可能與孤立性視神經(jīng)炎的發(fā)生有關(guān)，需要進一步嚴格的臨床對照試驗。 6.在原發(fā)性脫髓鞘性視神經(jīng)炎患者的首次發(fā)病中，攜帶ε4等位基因的眼與不攜帶的眼在最低視力和半年后的預(yù)后視力兩個層面均不同(P＜0.05)，前者視力≤0.05的比例高于后者。前者視力的恢復(fù)率低于后者。是否攜帶ε4等位基因與是否雙眼發(fā)病、眼痛和視乳頭水腫均無關(guān)(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).
【學(xué)位授予單位】：中國人民解放軍軍醫(yī)進修學(xué)院
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R774.6

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