【摘要】 目的分析热性惊厥(FS)的临床特征和研究TNFα-238基因多态性在FS组与健康对照组(NC)中的分布,探讨TNFα-238基因多态性与儿童FS的相关性。方法收集2017年6月—2018年5月在上海市儿童医院急诊科诊治的108例FS患儿临床资料,分为单纯性热性惊厥(SFS)亚组(82例)和复杂性热性惊厥(CFS)亚组(26例),比较两组的临床特征及实验室指标;选择同期性别、年龄匹配的健康体检儿童108例,设为健康对照(NC)组。应用高分辨率熔解曲线和聚合酶链反应结合基因测序的方法检测受试儿童的TNFα-238多态性,并分析其基因型、等位基因频率在各组间的分布。结果 SFS亚组患儿发作时体温显著高于CFS亚组(Z=-2.064,P=0.039);SFS亚组患儿发作后血糖水平显著高于CFS亚组(Z=-1.895,P=0.048)。3组TNFα-238多态性的基因型频率分布均符合Hardy-Weinberg平衡(P值均>0.05)。本组研究群体中未检测到TNFα-238位点的AA基因型,3组间其他各基因型、等位基因频率的差异均无统计学意义(P值均>0.05)。结论在本研究群体中未发现TNFα-238基因多态性与中国汉族儿童SFS和CFS发生的相关性;但应注意监测FS特别是SFS患儿的血糖,以预防高血糖所致的相关损害。更多还原

【Abstract】 Objective To analyze clinical features of febrile seizures(FS) and the distribution of tumor necrosis factor(TNF) α-238 gene polymorphism in FS and healthy controls(NC), so as to explore the correlation between TNFα-238 gene polymorphism and FS in children. Methods Clinical data of 108 children with FS diagnosed and treated in the emergency department of Shanghai Children’s Hospital from June 2017 to May 2018 were divided into simple febrile seizure(SFS) subgroup(n=82) and complex febrile seizures(CFS) subgroup(n=26). Clinical and laboratory indexes were compared between the two groups. Meanwhile, 108 gender-and age-matched healthy children were selected and assigned to NC group. High-resolution melting curve, polymerase chain reaction and gene sequencing were used to detect the TNFα-238 polymorphism. The distribution of genotype and allele frequency were analyzed. Results The body temperature and blood glucose level of children in the SFS subgroup were significantly higher than those in the CFS subgroup(Z=-2.064, P=0.039; Z=-1.895, P=0.048). The genotype frequency of TNFα-238 polymorphism in the three groups all accorded with Hardy-Weinberg equilibrium(all P>0.05). The AA genotype was not detected in this study, and there were no significant differences in the other genotypes or allele frequencies among the three groups(all P>0.05). Conclusion There is no correlation between the TNFα-238 gene polymorphism and the occurrence of SFS and CFS in Chinese Han children in this research population. However, attention should be paid to blood glucose monitoring in children with FS, especially SFS, to prevent related damage caused by hyperglycemia.更多还原