线粒体肌病临床病理学特征及简易乳酸运动试验筛查价值  

Clinical and pathological characteristics of mitochondrial myopathy and the screening value of simplified serum lactic acid exercise test

作　　者：祝小芬 丁冀[3] 朱筱琦[3] 李园园[3] 都爱莲[3] 

机构地区：[1]浙江大学医学院附属第二医院神经内科,杭州310009 [2]浙江省衢州市柯城区人民医院神经内科,邮政编码324000 [3]上海交通大学医学院附属同仁医院神经内科,200336

出　　处：《中国现代神经疾病杂志》2016年第12期859-864,共6页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家自然科学基金青年科学基金资助项目(项目编号:81200697);上海市卫生和计划生育委员会科研课题(项目编号:201540050)~~

摘　　要：目的总结线粒体肌病(MM)的临床病理学特点,探讨简易乳酸运动试验在线粒体肌病筛查中的价值。方法分析经临床和病理学明确诊断的15例线粒体肌病患者临床病理学特点。15例线粒体肌病患者、11例其他肌肉疾病(OM)患者和21例正常对照者行简易乳酸运动试验,于运动前、运动后即刻和运动后10 min检测血清乳酸水平。结果线粒体肌病患者主要表现为发作性加重的肌肉酸痛无力,8例组织病理学显示破碎红纤维比例>5%。简易乳酸运动试验显示:MM组运动前、运动后即刻和运动后10 min血清乳酸为(3.57±1.88)、(10.98±4.84)和(7.87±4.38)mmol/L,OM组为(1.89±0.98)、(6.05±4.07)和(4.13±3.14)mmol/L,对照组为(1.91±0.53)、(3.37±1.22)和(2.52±0.89)mmol/L。MM组运动前(P=0.000,0.001)、运动后即刻(P=0.000,0.001)和运动后10 min(P=0.000,0.003)血清乳酸水平均高于对照组和OM组,OM组仅运动后即刻血清乳酸水平高于对照组(P=0.042);3组运动后即刻(P=0.000,0.000,0.003)和运动后10 min(P=0.000,0.000,0.013)血清乳酸水平均高于运动前,运动后即刻亦高于运动后10 min(P=0.000,0.000,0.003)。3组血清乳酸水平升高趋势尤以MM组最显著,对照组最低平。结论简易乳酸运动试验简单易行,可以作为基层医院对线粒体肌病的初筛试验。Objective To analyze clinical and pathological characteristics of mitochondrial myopathy （MM） in 15 patients, and to study the value of simplified serum lactic acid exercise test in the screening of mitochondrial myopathy. Methods A total of 15 patients with mitochondrial myopathy diagnosed clinically and pathologically, 11 patients with other muscular diseases （OM）, and 21 normal controls were collected. All subjects went up and down stairs for 5 min with medium effort. Blood samples for serum lactic acid＇detection were collected from all subjects before exercise, immediately after exercise and 10 min after exercise. Serum lactic acid levels were compared among 3 groups and among 3 time points. Results Patients with mitochondrial myopathy mainly presented as paroxysmally progressive muscular soreness and weakness. Histopathological examination showed there were 8 cases with the proportion of ragged red fibers （RRF） more than 5%. Serum lactic acid level before exercise, immediately after exercise and 10 min after exercise were （3.57 ± 1.88）, （10.98± 4.84） and （7.87 ± 4.38） mmol/L in MM group, （1.89 ± 0.98）, （6.05 ± 4.07） and （4.13 ± 3.14） mmol/L in OM group, （1.91 ± 0.53）, （3.37± 1.22） and （2.52 ±0.09） mmol/L in control group. Serum lactic acid level in MM group was significantly higher than that in control and OM groups before exercise （P = 0.000, 0.001）, immediately after exercise （P = 0.000, 0.001）, and 10 rain after exercise （P = 0.000, 0.003）. Serum lactic acid level in OM group was significantly higher than that in control group immediately after exercise （P = 0.042）. Serum lactic acid level in 3 groups immediately after exercise （P = 0.000, 0.000, 0.003） and 10 rain after exercise （P = 0.000, 0.000, 0.013） was significantly higher than that before exercise. Serum lactic acid level immediately after exercise was significantly higher than that 10 min after exercise in 3 groups （P = 0.000, 0.000, 0.003）. Serum lactic acid l

关 键 词：线粒体肌病 病理学 乳酸 

分 类 号：R746[医药卫生—神经病学与精神病学]