本文選題：運(yùn)動(dòng)神經(jīng)元病 + 臨床特征��； 參考：《河北醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：通過觀察肌萎縮側(cè)索硬化（Amyotrophic Lateral Sclerosis,ALS）/運(yùn)動(dòng)神經(jīng)元�。∕otor Neuron Disease,MND）的臨床特征，包括發(fā)病年齡、性別、起病方式及生化、影像檢查等的多種指標(biāo)，探究其與發(fā)病的相關(guān)性，為早期準(zhǔn)確診斷運(yùn)動(dòng)神經(jīng)元病并進(jìn)一步研究其病因、發(fā)病機(jī)制及治療提供臨床數(shù)據(jù)支持。 方法： 回顧性分析我院神經(jīng)內(nèi)科收治的以肌肉無力、肌肉萎縮或言語不利為首發(fā)癥狀，肌電圖提示廣泛神經(jīng)源性損害的病例共40例，并對(duì)其中確診及很可能的36例運(yùn)動(dòng)神經(jīng)元病病人的發(fā)病年齡、性別、體重指數(shù)、病程、起病部位、臨床體征、輔助檢查、早期誤診情況及預(yù)后進(jìn)行分析總結(jié)并隨訪。 結(jié)果： 140例以運(yùn)動(dòng)神經(jīng)元病表現(xiàn)為特征的病例中，34例為肌萎縮側(cè)索硬化（Amotrophic lateral sclerosis,ALS），1例為進(jìn)行性延髓麻痹（Progressivebulbar palsy, PBP），2例為肯尼迪病(Kennedy’s disease,KD)，1例為腦血管病合并甲狀腺功能亢進(jìn)，2例為副腫瘤綜合征。34例肌萎縮側(cè)索硬化病例中1例合并甲狀腺炎，1例合并胸腺增生，1例為連枷臂綜合征。 2運(yùn)動(dòng)神經(jīng)元病臨床特點(diǎn)、輔助檢查、早期誤診情況及預(yù)后 2.1臨床特點(diǎn)本病隱襲起病，平均病程13.94±12.36月，中老年發(fā)病最常見，平均發(fā)病年齡為56.86±10.83歲，男性多于女性，男女性別比例為1.5：1。首發(fā)癥狀以肌肉無力最常見。37%病例存在錐體束征，40%病人存在腱反射亢進(jìn)，14%病例存在肌束震顫。 2.2輔助檢查35例病例均行肌電圖檢查，存在廣泛神經(jīng)源性損害，胸鎖乳突肌異常占57%。26例行肺部CT檢查，其中11例存在肺部感染。19例行頸椎MRI檢查，其中18例異常，4例在疾病早期誤診為頸椎病治療。1例甲狀腺功能檢查提示甲狀腺炎，經(jīng)治療后期復(fù)查正常，但肢體無力癥狀進(jìn)行性加重。術(shù)前四項(xiàng)檢查中乙型病毒性肝炎（小三陽）2例，慢性丙肝1例。25例行免疫球蛋白檢查，2例IgM異常，2例IgA異常，6例IgG異常，其中IgA水平與健康人群相比存在統(tǒng)計(jì)學(xué)差異；17例行補(bǔ)體檢查，5例C3降低，3例C4降低，兩者與健康人群相比存在統(tǒng)計(jì)學(xué)差異；24例病例行腫瘤篩查，12例提示神經(jīng)元烯醇化酶升高，與健康人群比較存在統(tǒng)計(jì)學(xué)差異；20例行葉酸檢查均在正常范圍，18例行同型半胱氨酸檢查，9例同型半胱氨酸升高，二者與健康人群差異具有統(tǒng)計(jì)學(xué)意義；28例病例行鐵蛋白檢查，26例行轉(zhuǎn)鐵蛋白檢查，其中5例鐵蛋白升高，與健康人群相比無統(tǒng)計(jì)學(xué)差異；25例轉(zhuǎn)鐵蛋白降低，其降低與健康人群比較存在統(tǒng)計(jì)學(xué)差異；34例患者接受血脂檢查，其中高膽固醇1例，甘油三酯升高者5例，高密度脂蛋白降低12例，2例低密度脂蛋白升高，其中甘油三脂、膽固醇升高與健康人群比較沒有統(tǒng)計(jì)學(xué)意義，而高密度脂蛋白及低密度脂蛋白變化較健康人群有統(tǒng)計(jì)學(xué)意義。34例行肌酶檢查，其水平升高與健康人群比較存在統(tǒng)計(jì)學(xué)差異。 2.3早期誤診情況35例病例中有8例曾在初期被誤診為其他疾病，誤診率為22.8%。其中3例被誤診為腦血管病，4例被誤診為頸椎病，1例被誤診為冠心病。 2.4預(yù)后23例運(yùn)動(dòng)神經(jīng)元病病例成功隨訪，隨訪率為66%，診斷明確后服用利魯唑病例為11例，占31.4%，其中4例出現(xiàn)不良反應(yīng)（36%），停藥后緩解。死亡人數(shù)為7人，死亡率30.4%，平均生存期為16個(gè)月（16.14±4.06月），，均死于呼吸衰竭。 結(jié)論： 1臨床上易與運(yùn)動(dòng)神經(jīng)元病混淆的疾病較多，本研究中表現(xiàn)為運(yùn)動(dòng)神經(jīng)元病特征的其他疾病包括肯尼迪病，腦血管病合并甲狀腺功能亢進(jìn)，副腫瘤綜合征等。本組研究MND早期誤診率為22.8%。其中以上肢無力為主要癥狀者常被誤診為頸椎病，而以言語不利為主要癥狀者常被誤診為腦血管病。 235例運(yùn)動(dòng)神經(jīng)元病病人肌電圖均顯示廣泛神經(jīng)源性損傷，胸鎖乳突肌異常占57%，其異常與起病部位有關(guān)。有些病人表現(xiàn)出IgA、C3、C4異常，血清葉酸水平下降，同型半胱氨酸水平升高。與既往研究論斷一致，轉(zhuǎn)鐵蛋白降低，提示運(yùn)動(dòng)神經(jīng)元病患者存在鐵代謝異常。本研究中34%的MND患者血清肌酸激酶升高，這可能與肌束震顫及肌肉失神經(jīng)支配損傷肌纖維相關(guān)，其與男女性別、發(fā)病部位無相關(guān)性�；颊咴\斷明確后僅有31.4%服用利魯唑，且其中的36%因存在不良反應(yīng)而停用。有隨訪結(jié)果病例中死亡率為30.4%，平均生存期為16個(gè)月（16.14±4.06月），均死于呼吸衰竭。
[Abstract]:Objective : To investigate the clinical characteristics of Amyotrophic lateral sclerosis ( ALS ) / motor neuron disease ( MND ) , including age , sex , onset of disease , biochemistry and image examination .

Method :

A retrospective analysis of 40 cases with muscle weakness , muscular atrophy or speech adverse to the neurological deficit of our hospital was analyzed and summarized and followed up for 36 cases of motor neuron disease , including age , sex , body mass index , course of disease , site of disease , clinical signs , auxiliary examination , early misdiagnosis and prognosis .

Results :

Among the 140 cases with motor neuron disease , 34 cases were myotrophic lateral sclerosis ( ALS ) , 1 case was progressive bulbar palsy ( PBP ) , 2 cases were Kennedy ' s disease ( KD ) , 1 case was cerebrovascular disease complicated with hyperthyroidism , 2 cases were paraneoplastic syndrome .

Clinical characteristics , auxiliary examination , early misdiagnosis and prognosis of motor neuron disease

2.1 The average disease course was 13.94 鹵 12.36 months . The average age was 56.86 鹵 10.83 years old , the average age was 56.86 鹵 10.83 years old , the male was more than the female , the sex ratio of male and female was 1.5 : 1 . The first symptom was the most common muscle weakness .

2 . Of the 35 cases , 35 cases were examined with EMG . There were extensive nerve source damage , abnormal chest - lock mastoid muscle accounted for 57 % . Of them , 11 cases had pulmonary infection . Among them , 18 cases had abnormal lung infection and 4 cases were misdiagnosed as cervical spondylosis in the early stage of disease .
17 routine complement examinations , 5 C3 decreased , 3 C4 decreased , both had statistical difference compared with the healthy population ;
In 24 cases , tumor screening was performed in 12 cases , and there was statistical difference between the two groups .
20 routine folic acid examinations were in the normal range , 18 cases of homocysteine were examined , 9 cases of homocysteine increased , the difference between them was statistically significant with the healthy population ;
There were 28 cases of iron protein examination , 26 cases of transferrin examination , 5 cases of ferritin increased , there was no statistical difference compared with healthy population ;
25 cases of transferrin decreased , which had statistical difference compared with healthy population ;
In 34 patients with high cholesterol , 5 cases of high cholesterol , 12 cases with high density lipoprotein and 2 low density lipoprotein , there was no significant difference between the high density lipoprotein and the low density lipoprotein in healthy population .

2.3 Among the 35 cases , 8 of 35 cases were misdiagnosed as other diseases at the initial stage , and the misdiagnosis rate was 22 . 8 % . Among them , 3 cases were misdiagnosed as cerebrovascular disease , 4 cases were misdiagnosed as cervical spondylosis , 1 case was misdiagnosed as coronary heart disease .

2 . The prognosis of 23 cases of motor neuron disease was followed up successfully , the follow - up rate was 66 % , the diagnosis was clear , the case was 11 cases , accounting for 31.4 % , among which 4 cases had adverse reaction ( 36 % ) , the death rate was 30 . 4 % , the average survival time was 16 months ( 16.14 鹵 4 . 06 months ) , all died from respiratory failure .

Conclusion :

In this study , other diseases characterized by motor neuron disease include Kennedy disease , cerebrovascular disease , hyperthyroid function and paraneoplastic syndrome . The early misdiagnosis rate of MND is 22 . 8 % .

Among the 235 cases of motor neuron disease , the EMG showed extensive nerve source injury , and abnormal chest - lock mastoid muscle accounted for 57 % . Some patients showed that IgA , C3 , C4 were abnormal , serum folic acid level decreased , and homocysteine level increased . There were 34 % of patients with MND who had abnormal iron metabolism . The mortality rate was 35.4 % in the patients with follow - up and 36 % . The average survival time was 16 months ( 16.14 鹵 4.06 months ) .

【學(xué)位授予單位】：河北醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R744.8

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