Objective To investigate the value of serum fibroblast growth factor21(FGF-21)as an early diagnostic marker for mitochondrial disease.Methods Serum FGF-2 1 ,lactate and crea-tine kinase levels and lactate to pyruvate(L/P)ratio were determined in 16 patients with mito-chondrial disease,31 patients without mitochondrial disease and 41 normal subjects between Sep-tember 2009 and October 2013 to confirm FGF-21 as an effective and reliable biomarker for mito-chondrial disease.The sensitivity,odds ratio(OR)and reliability of FGF-21 for diagnosing mito-chondrial disease were analyzed.Results Compared with patients without mitochondrial disease or normal subj ects,serum FGF-2 1 concentrations significantly increased in patients with mito-chondrial disease.Furthermore,FGF-2 1 showed a markedly higher diagnostic OR than other bio-markers(45.7,P<0.000 1).The sensitivity and receiver operating characteristic curve analysis showed that serum FGF-2 1 was the best predictor of mitochondrial disease.After control for po-tential confounders,multivariate logistic regression analysis showed that only serum FGF-2 1 could predict and assess mitochondrial disease.Conclusion Serum FGF-2 1 is the most sensitive marker for diagnosing mitochondrial disease.Compared with lactate,creatine kinase and L/P rati-o,serum FGF-2 1 is the best predictor of mitochondrial disease.%目的：探讨血清 FGF-21标记物对线粒体疾病早期诊断价值。方法收集2009年9月至2013年10月间16例线粒体疾病患者，31例非线粒体疾病患者（疾病对照组），41例正常成人（正常对照组），比较血清 FGF-21、乳酸盐、肌酸激酶及乳酸盐丙酮酸盐，明确血清 FGF-21是诊断线粒体疾病有效及可靠性的生物标记物，通过统计学分析血清 FGF-21标记物诊断线粒体疾病的敏感性、优势比及可靠性。结果在线粒体疾病血清 FGF-21浓度明显增高，所有实验组血清 FGF-21明显表达不同，与其他生物标记物比较显示血清 FGF-21具有显著的诊断优势比（45．7，P＜0．0001），根据敏感性和 ROC曲线分析，血清 FGF-21是检测诊断线粒体疾病最好指标。控制潜在因素对血清 FGF-21影响，采用多变量逻辑回归分析，发现仅有血清 FGF-21能够预测评估线粒体疾病。结论研究显示血清 FGF-21是检测诊断线粒体疾病最敏感标记物，表明血清 FGF-21与乳酸盐、肌酸激酶及乳酸盐丙酮酸盐比较，显示血清 FGF-21是检测诊断线粒体疾病最好的指标。
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