探讨NDUFV1基因变异与儿童遗传性脑白质病的关系

目的探讨NDUFV1基因变异与儿童遗传性脑白质病的关系。方法对郑州大学附属儿童医院2018年3月-2018年6月临床诊断的3例儿童遗传性脑白质病进行血乳酸、脑脊液乳酸检查和基因分析检测NDUFV1基因变化。结果3例患儿血乳酸、脑脊液乳酸均有不同程度升高,遗传学分析提示NDUFV1有3种基因变异类型(NDUFV1基因的p.R377C、p.R377T、p.T368P)。结论儿童遗传性脑白质病是较少见的遗传性代谢性疾病,对有特殊临床表现的患儿可进行NDUFV1基因变异筛查。

To study the correlation between genetic NDUFV1 gene changes and leukoencephalopathy in children

Objective To explore the relationship between genetic change of NDUFV1 and children hereditary leukoencephalopathy.Methods From the Children's Hospital Affiliated to Zhengzhou University from March 2018 to June 2018,3 cases of clinical diagnosed hereditary leukoencephalopathy were conducted for the detection of blood lactic acid and cerebrospinal fluid examination,and gene analysis was adopted to detect the NDUFV1 lactate changes.Results Blood lactic acid and cerebrospinal fluid lactic acid both increased in 3 cases.Genetic analysis showed that NDUFV1 had three types of gene variations(NDUFV1 gene p.R377C,p.R377T,p.T368P).Conclusion Children hereditary leukoencephalopathy is a rare inherited metabolic disease,and it is recommended for children with special clinical manifestations to conduct NDUFV1 gene mutation screening.