"Circulating FGF21 and GDF15 as Biomarkers for Screening, Diagnosis, and Severity Assessment of Primary Mitochondrial Disorders in Children"

作者全名："Li, Yi; Li, Shengrui; Qiu, Yinfeng; Zhou, Maobin; Chen, Min; Hu, Yue; Hong, Siqi; Jiang, Li; Guo, Yi"

作者地址："[Li, Yi; Li, Shengrui; Qiu, Yinfeng; Zhou, Maobin; Chen, Min; Hu, Yue; Hong, Siqi; Jiang, Li; Guo, Yi] Childrens Hosp Chongqing Med Univ, Dept Neurol, Chongqing, Peoples R China; [Li, Yi; Chen, Min; Hu, Yue; Hong, Siqi; Jiang, Li; Guo, Yi] Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China; [Li, Yi; Chen, Min; Hu, Yue; Hong, Siqi; Jiang, Li; Guo, Yi] Minist Educ Key Lab Child Dev & Disorders, Chongqing, Peoples R China; [Li, Yi; Chen, Min; Hu, Yue; Hong, Siqi; Jiang, Li; Guo, Yi] Chongqing Key Lab Pediat, Chongqing, Peoples R China"

通信作者："Guo, Y (通讯作者)，Childrens Hosp Chongqing Med Univ, Dept Neurol, Chongqing, Peoples R China.; Guo, Y (通讯作者)，Natl Clin Res Ctr Child Hlth & Disorders, Chongqing, Peoples R China.; Guo, Y (通讯作者)，Minist Educ Key Lab Child Dev & Disorders, Chongqing, Peoples R China.; Guo, Y (通讯作者)，Chongqing Key Lab Pediat, Chongqing, Peoples R China."

来源：FRONTIERS IN PEDIATRICS

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000796332000001

JCR分区：Q1

影响因子：2.6

年份：2022

卷号：10

期号：　

开始页：　

结束页：　

文献类型：Article

关键词：primary mitochondrial disorders; childhood; GDF15; FGF21; biomarkers

摘要："BackgroundPrimary mitochondrial disorders (PMDs) are a diagnostic challenge for paediatricians, and identification of reliable and easily measurable biomarkers has become a high priority. This study aimed to investigate the role of serum fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) in children with PMDs. MethodsWe analysed serum FGF21 and GDF15 concentrations by enzyme-linked immunosorbent assay (ELISA) in children with PMDs, patients with non-mitochondrial neuromuscular disorders (NMDs), and aged-matched healthy children, and compared them with serum lactate and ratio of lactate and pyruvate (L/P). We also evaluated correlations between these biomarkers and the phenotype, genotype, and severity of PMDs. ResultsThe median serum GDF15 and FGF21 concentrations were significantly elevated in fifty-one patients with PMDs (919.46 pg/ml and 281.3 pg/ml) compared with those of thirty patients with NMDs (294.86 pg/ml and 140.51 pg/ml, both P < 0.05) and fifty healthy controls (221.21 pg/ml and 85.02 pg/ml, both P < 0.05). The area under the curve of GDF15 for the diagnosis of PMDs was 0.891, which was higher than that of the other biomarkers, including FGF21 (0.814), lactate (0.863) and L/P ratio (0.671). Calculated by the maximum Youden index, the critical value of GDF15 was 606.369 pg/ml, and corresponding sensitivity and specificity were 74.5and 100%. In the PMD group, FGF21 was significantly correlated with International Paediatric Mitochondrial Disease Scale (IPMDS) score. The levels of GDF15 and FGF21 were positively correlated with age, critical illness condition, and multisystem involvement but were not correlated with syndromic/non-syndromic PMDs, different mitochondrial syndromes, nuclear DNA/mitochondrial DNA pathogenic variants, gene functions, or different organ/system involvement. ConclusionRegardless of clinical phenotype and genotype, circulating GDF15 and FGF21 are reliable biomarkers for children with PMDs. GDF15 can serve as a screening biomarker for diagnosis, and FGF21 can serve as a severity biomarker for monitoring."

基金机构：　

基金资助正文：