血清丙酮酸水平和乳酸/丙酮酸比值在线粒体病筛查中的作用  

Serum pyruvate level and lactate/pyruvate ratio in the role of mitochondrial disease screening

作　　者：马振菁[1] 邓思珊[1] 刘洪旭[1] 黄炼红[1] 

机构地区：[1]福建省医学科学研究所医学测试中心,福州350001

出　　处：《国际检验医学杂志》2010年第12期1396-1397,共2页International Journal of Laboratory Medicine

摘　　要：目的分析线粒体病患者静息和进行最小运动量试验时血清乳酸和丙酮酸的浓度,探讨血清丙酮酸水平及乳酸/丙酮酸比值在线粒体病筛查中的临床意义。方法以线粒体病患者15例和其他肌病25例作为研究对象,30例健康体检者为正常对照。收集晨起空腹静息静脉血,采用气相色谱法定量测定血清乳酸、丙酮酸水平,以其中线粒体病组12例和其他肌病组12例做最小运动量试验,测定运动前、即刻、运动后5min和20min的血清乳酸、丙酮酸水平。结果静息时线粒体病组的血清乳酸(4.34±1.59)mmol/L、丙酮酸(0.21±0.05)mmol/L和其他肌病组血清乳酸(3.88±1.11)mmol/L均显著高于健康对照组的血清乳酸(1.24±0.55)mmol/L和丙酮酸(0.08±0.04)mmol/L(P<0.01);在最小运动量试验,线粒体病组与其他肌病组相比较,血清丙酮酸水平在运动前、即刻、运动后5min和20min显著增高(P<0.01),乳酸/丙酮酸的比值在运动前和运动后20min差异具有统计学意义(P<0.05);与自身运动前比较,各组的乳酸、丙酮酸水平在运动后即刻和运动后5min均显著增高(P<0.01),而乳酸/丙酮酸的比值差异无统计学意义(P>0.05)。结论患者血清丙酮酸水平和乳酸/丙酮酸的比值可以作为筛查线粒体病的一种重要的生化指标。Objective To determine the serum concentrations of lactate and pyruvate in mitochondrial patients when they had a rest and had minimum exercise tests,and to explore the clinical significance of serum pyruvate levels and lactate/pyruvate ratio in mitochondrial disease screening. Methods 15 mitochondrial disease （already diagnosed） patients and 25 other myopathies patients had taken part in the study,30 healthy volunteers as normal control. Fasting early morning venous blood was collected at tranquillization. Serum lactate and pyruvate were quantitative determined by gas chromatography. The lactate and pyruvate levels in serum of 12 patients with mitochondrial disease and 12 other myopathy patients were measured before,immediately and after the minimum exercise respectively. Results The serum lactate concentration of the group of mitochondrial disease patients at tranquillization was （4.34 ±1.59） mmol/L,and the concentration of pyruvate was （0.21±0.05） mmol/L. The serum lactale and pyruvate concentrations of other myopathy group were （3.88 ±1. 11） mmol/L and （0. 08 ±0. 04） mmol/L respectively, which were slgnifieantly higher than control group＇s （P〈0.01）. In minimum exercise testing, the serum pyruvate level of mitochondrial disease group was significantly higher （P〈0.01） before,while, 5 min and 20 min after exercise,compared with other myopathy group. And lactate/ pyruvate ratio before exercise was significant different from that 20 min after （P〈0.05）. Compared with before exercise, lactate and pyruvate levels of each group were significantly increased （P〈0.01） immediately and 5 min after exercise, while lactate/pyru vate ratio was not significantly different （P〈0. 05）. Conclusion Serum pyruvate level and lactate/pyruvate ratio of mitochondrial disease patients could be an important biochemical screening indicator.

关 键 词：线粒体肌病 线粒体脑肌病 丙酮酸 乳酸 普查 血清 

分 类 号：R446.112[医药卫生—诊断学] R746.1[医药卫生—临床医学]