MELAS综合症的临床、病理及基因分析、治疗方法

IMELAS综合症的临床、病理及基因分析、治疗方法摘要目的：总结线粒体脑肌病伴高乳酸血症和卒中样发作（Mitochondrialencephalomyopathy-laticaxidosis-strokelikeepisode，MELAS）的临床特点、病理特点、分子生物学特点、影像学特点以及治疗方法并分析鸡尾酒疗法在MELAS综合症临床治疗中的应用价值。方法：搜集现有文献资料并从MELAS综合症的临床、病理及基因分析、治疗方法等视角出发，对各部分内容进行总结。随后选取我院2014年5月~2016年5月收治的30例MELAS综合症患者为研究对象，在征得本院伦理委员会批准及患者签署知情同意书后对其实施鸡尾酒疗法治疗，使用的药物包括硫辛酸300mg/d＋辅酶Q10软胶囊240mg/d＋肌苷片3g/d＋丁苯酞0.8g/d，以12d为一个治疗周期，持续治疗5个疗程后比较其临床疗效。结果：治疗前30例MELAS综合症患者生活质量总分（77.84±1.16）分、SAS评分（64.33±1.12）分、SDS评分（64.38±1.15）分、血乳酸（3.35±0.15）mmol/L、血清NO（50.22±2.27）umol/L，经过5个疗程治疗后生活质量总分（88.69±1.21）分、SAS评分（54.25±1.20）分、SDS评分（55.42±1.08）分、血乳酸（2.44±0.20）mmol/L、血清NO（78.33±2.30）umol/L，二者相比较，差异有统计学意义（P＜0.05）。结论：MELAS综合症临床特点复杂多样，结合病理特点、分子生物学特点、影像学特点将有助于临床诊断工作开展，虽然现有临床中已经研发出多种治疗方案，但是药物治疗仍然是目前国内外医学界首选治疗手段，而鸡尾酒疗法治疗该病症能够取得令患者及临床满意的疗效，可作为MELAS综合症临床治疗的优选方案推广使用。关键词：线粒体脑肌病伴高乳酸血症和卒中样发作；临床；病理；基因IIMELASsyndromeintheclinical,pathologicalandgeneticanalysisandtreatmentAbstractObjective:tosummarizethebrainmitochondriamyopathywithhighlacticacidosisandstrokesampleseizures(Mitochondrialencephalomyopathy-laticaxidosis-strokelikeepisodecame,MELAS)theclinicalfeatures,pathologicalcharacteristics,molecularbiologycharacteristics,imagingcharacteristicsandtreatmentmethodsandanalyzethecocktailtherapyinMELASsyndromeclinicalapplicationvalue.Methods:collectedfromexistingliteratureandMELASsyndromeintheclinical,pathologicalandgeneticanalysis,treatmentmethods,suchasAngle,tosummarizeeachpart.ThenselectfromMay2014toMay2016wereastheresearchobject,and30patientswithMELASsyndromeinpatientsinourhospitalethicscommitteeapprovalandsigninginformedconsentbookimposedcocktailtherapy,useofdrugsincludinglipoicacid300mg/d+coenzymeQ10softcapsule240mg/d+inosinetablets3g/d+0.8g/dbutylphthalide,with12dasatreatmentcycle,continuetocomparetheclinicalcurativeeffectafterthetreatmentoffivecourse.Results:30casesofMELASsyndromepatientsqualityoflifescores(77.84+1.16)points,SAS,SDSscore(64.33+1.12)pointsscore(64.38-1.15),bloodlacticacid(3.35+0.15)tendency,serumNOL(50.22+2.27)umol/L,qualityoflifescoresafterfivecoursesoftreatment(88.69+1.21)points,SAS,SDSscore(54.25+1.20)pointsscore(55.42-1.08),bloodlacticacid(2.44+0.20)tendency,serumNOL(78.33+2.30)umol/L,comparedthetwo,thedifferencewasstatisticallysignificant(P0.05).Conclusion:thecombinationofMELASsyndromecomplexandvariedclinicalfeatures,pathologicalcharacteristicsandmolecularbiologycharacteristics,imagingcharacteristicswillhelpclinicaldiagnosiswork,eventhoughtheexistingclinicalhasIIIdevelopedavarietyoftreatments,butdrugtreatmentisstillthepreferredmedicaltreatmentathomeandabroad,andthecocktailtherapytotreattheillnesscanmakepatientsandclinicalsatisfactorycurativeeffect,canbeusedasMELASsyndromeclinicaltreatmentsolutionstopromote.Keywords:Mitochondrialencephalomyopathy-laticaxidosis-strokelikeepisodecame;Clinical;Pathology.geneIV目录摘要...........................................................................................................................IAbstract........................................................................................................................II1引言...........................................................................................................................12MELAS综合症的临床、病理及基因分析.............................................................32.1MELAS综合症的临床特点.............................................................................32.2MELAS综合症的病理特点.............................................................................32.3MELAS综合症的分子生物学特点.................................................................42.4MELAS综合症影像学特点.............................................................................52.5MELAS综合症的治疗方法.............................................................................63MELAS综合症的临床治疗...................................................................................113.1一般资料.........................................................................................................113.2方法.................................................................................................................113.3观察指标.........................................................................................................113.4统计学方法.....................................................................................................124结果.........................................................................................................................134.1治疗前后生活质量比较.................................................................................134.2治疗前后SAS评分、SDS评分比较...........................................................134.3治疗前后血乳酸、血清NO比较.................................................................135讨论.........................................................................................................................156结论.........................................................................................................................19参考文献...............................................................................