Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, 250000, China.
Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, Shandong, 266035, China.
Ann Clin Transl Neurol. 2020 Jul;7(7):1204-1213. doi: 10.1002/acn3.51104. Epub 2020 Jun 25.
Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) represent promising biomarkers for MD diagnosis. Herein we conducted a meta-analysis to compare their diagnostic accuracy for MDs.
We comprehensively searched PubMed, EMBASE, MEDLINE, the Web of Science, and Cochrane Library up to 1 January 2020. Data were analyzed by two independent reviewers. We obtained the sensitivity and specificity, positive and negative likelihood ratios (LR+ and LR-), diagnostic odds ratios (DORs) and summary receiver operating characteristic (SROC) curves of each diagnostic method.
Eight randomized controlled trials (RCTs) including 1563 participants (five encompassing 718 FGF-21 assessments; seven encompassing 845 participants for GDF-15) were included. Pooled sensitivity, specificity, DOR and SROC of FGF-21 were 0.71 (95% CI 0.53, 0.84), 0.88(95% CI 0.82, 0.93), 18 (95% CI 6, 54), 0.90 (95% CI 0.87, 0.92), respectively, which were lower than GDF-15 values; 0.83 (95% CI 0.65, 0.92), 0.92 (95% CI 0.84, 0.96), 52 (95% CI 13, 205), 0.94 (95% CI 0.92, 0.96).
FGF-21 and GDF-15 showed acceptable sensitivity and high specificity. Of the biomarkers, GDF-15 had the highest diagnostic accuracy.
由于其表型多样化，线粒体疾病（MDs）的诊断往往较为困难。成纤维细胞生长因子 21（FGF-21）和生长分化因子 15（GDF-15）是 MD 诊断的有前途的生物标志物。本研究进行了一项荟萃分析，以比较它们在 MD 诊断中的准确性。
我们全面检索了 PubMed、EMBASE、MEDLINE、Web of Science 和 Cochrane Library，检索时间截至 2020 年 1 月 1 日。数据由两名独立的审阅者进行分析。我们获得了每种诊断方法的敏感性、特异性、阳性和阴性似然比（LR+和 LR-）、诊断比值比（DOR）和汇总受试者工作特征（SROC）曲线。
纳入了 8 项随机对照试验（RCTs），包括 1563 名参与者（5 项包含 718 次 FGF-21 评估；7 项包含 845 名参与者的 GDF-15）。FGF-21 的汇总敏感性、特异性、DOR 和 SROC 分别为 0.71（95%CI 0.53, 0.84）、0.88（95%CI 0.82, 0.93）、18（95%CI 6, 54）和 0.90（95%CI 0.87, 0.92），低于 GDF-15 的值；0.83（95%CI 0.65, 0.92）、0.92（95%CI 0.84, 0.96）、52（95%CI 13, 205）和 0.94（95%CI 0.92, 0.96）。
FGF-21 和 GDF-15 具有可接受的敏感性和高特异性。在这些生物标志物中，GDF-15 具有最高的诊断准确性。
