摘要
目的探讨血清成纤维细胞生长因子21(FGF21)在儿童线粒体基因突变所致线粒体病中的诊断价值。方法收集儿童线粒体病患儿10例(线粒体病组)、脊肌萎缩症组10例(病例对照组)、杜氏肌营养不良组10例(病例对照组)和健康体检儿童10名(健康对照组),对线粒体病患儿行线粒体基因3 243/8 344/8 993三热点突变检测,对脊肌萎缩症患儿行SMN1基因Exon7和Exon8基因缺失分析,对杜氏肌营养不良患儿行DMD19个热点缺失基因检测。对已行基因诊断的儿童线粒体病患儿、脊肌萎缩症组和杜氏肌营养不良组患儿、健康对照组儿童行血清FGF21水平检测。应用SPSS 22.0统计软件对各组研究对象在血清FGF21水平的差异进行显著性检验。结果在线粒体病组中6例患儿线粒体基因A3243G突变,4例线粒体基因T8993C突变,皆符合线粒体病诊断。脊肌萎缩症组和杜氏肌营养不良组皆已基因确诊。线粒体病组患儿血清FGF21的平均水平(178.57±44.98)pg/m L明显高于脊肌萎缩症组(32.41±7.83)pg/m L、杜氏肌营养不良组(21.52±3.16)pg/m L和健康对照组(20.63±1.12)pg/m L,差异有统计学意义(P<0.01);脊肌萎缩症组、杜氏肌营养不良组和健康对照组之间差异无统计学意义(P>0.05)。结论血清FGF21水平在线粒体病患儿,尤其是线粒体基因A3243G突变、T8993C突变所致的线粒体病中有较高的诊断价值。
Objective To investigate the significance of serum fibroblast growth factor 21（ FGF21） in mitochondrial diseases in children. Methods Twenty patients with mitochondrial diseases,twenty patients with Duchenne muscular dystrophy（ DMD）,twenty patients with spinal muscular atrophy（ SMA） and twenty healthy controls in Guangzhou Women and Children＇s medical center were enrolled from January 2013 to June 2016. Patients with suspected mitochondrial diseases were examined for mitochondrial DNA（ mt DNA） 3243/8344/8993,and patients suspected as SMA or DMD were detected for exons 7 and 8 of SMN1 gene or 19 hotspot exons of DMD gene,respectively. The serum levels of FGF21 were measured in all patients and healthy controls. Results Six patients were detected to carry mt DNA A3243 G mutation,4 patients were detected to carry mt DNA T8993 C mutation,all of which were confirmed as mitochondrial diseases.Patients suspected as SMA or DMD were also confirmed by genetic analysis. Serum FGF21 levels were significantly elevated in patients with mitochondrial diseases（ 178. 57 ± 44. 98 pg/m L）,compared to patients with SMA（ 32. 41 ± 7. 83 pg/m L） and DMD（ 21. 52 ± 3. 16 pg/m L）,as well as controls（ 20. 63 ± 1. 12 pg/m L）（ P〈0. 01）. There was no significant difference among SMA patients,DMD patients and controls. Conclusion Serum FGF21 provides a high diagnostic value in discriminating mitochondrial disorders in children,especially patients harboring mt DNA A3243 G and T8993 C mutation.
作者
苏玲
盛慧英
洪玮
冯菲菲
SU Ling~;SHENG Hui-ying;HONG Wei;FENG Fei-fei(Department of Genetics and Endocrinology,Guangzhou women and children＇s medical center,Guangzhou 510623,Guangdong,China)
出处
《广东医学》
CAS
2018年第13期1971-1975,共5页
Guangdong Medical Journal
基金
广州市医药卫生科技项目(编号:20151A010048)
关键词
儿童
线粒体疾病
成纤维细胞生长因子
诊断价值
children
mitochondrial diseases
fibroblast growth factor
diagnostic value
