摘要
目的探讨新生儿不同程度高胆红素与血清G6PD基因突变类型的关系以及严重高胆红素血症脑损伤早期诊断及病情判断,为预测新生儿高胆红素血症脑损伤提供依据。方法对我院558例高胆红素血症患儿进行G6PD缺失筛查,其中53例基因缺失,对这些基因缺失患儿进行分组,分析G6PD基因G1388A和G1376T突变与高胆红素程度的关系;同时分析不同程度高胆红素血症与颅脑MRI、振幅整合脑电图(aEEG)、脑干听觉诱发电位(BAEP)和新生儿NBNA评分的关系。结果1)高胆红素患儿53例G6PD基因缺失,其中G1376T突变24例(45.3%),G1388A突变13例(24.5%),其余16例未定型;不同程度高胆红血素患儿与基因型G1388A或G1376T比较差异无统计学意义(P>0.05);突变型G1388A和G1376T与无G6PD缺失型对比,G6PD活性降低和首次黄疸出现时间更快(P<0.05)。2)不同程度高胆红素组颅脑MRI、aEEG、BAEP和新生儿NBNA评分比较差异有统计学意义;高胆红素组异常率高于中低胆红素组(P<0.05),中胆红素组异常率高于低胆红素组(P<0.05)。结论G1388A和G1376T是福州地区G6PD基因缺失最常见的两种突变形式。黄疸严重情况,颅脑MRI、aEEG、BAEP和新生儿NBNA评分有助于高胆红素血症脑损伤的早期诊断及预后判定。
Objective To explore the relationship between different levels of high bilirubin and the type of serum G6 PD gene mutation in neonates,and the early diagnosis and disease judgment of severe high bilirubin brain injury,in order to provide a basis for the prediction of neonatal hyperbilirubinemia brain injury.Methods Mutations of G6 PD gene G1388 Aand G1376 T were detected in children with different levels of high bilirubin,and their correlation with the level of high bilirubin was analyzed.Meanwhile the correlations between different levels of hyperbilirubinemia and brain MRI,aEEG,BAEP as well as neonatal NBNA score were also analyzed.Results 1)Among the children with high bilirubin,there were 53 cases of G6 PD gene deletion,of which 24 were G1376 T mutations and 13 were G1388 A mutations,accounting for 45.3%and 24.5%,respectively.The remaining 16 cases were undefined.There was no significant difference between the mutant G1388 A or G1376 Tand the children with different levels of high bilirubin(P>0.05).Compared with the children without G6 PD deficiency,mutations G1388 Aand G1376 Tshowed decreased G6 PD activity,and the occurrence of the first jaundice was faster,the difference was statistically significant(P<0.05).2)The brain MRI,aEEG,BAEP and neonatal NBNA scores in the high bilirubin group with different levels were statistically significant,the abnormal rate in the high group was significantly higher(P<0.05)than that in the moderate and low-level groups,and that in the moderate group was significantly higher(P<0.05)than that in the low group.Conclusion G1388 Aand G1376 Tare the two most common mutations of G6 PD gene deletion in Fuzhou.In severe cases of jaundice,craniocerebral MRI,aEEG,BAEP and neonatal NBNA scores are helpful for the early diagnosis and prognosis of hyperbilirubinemia brain injury.
作者
严争
刘凡
陈珊
陈俊
黄青兰
危夷
郑丽芬
杨清香
张丽萍
YAN Zheng;LIU Fan;CHEN Shan;CHEN Jun;HUANG Qinglan;WEI Yi;ZHENG Lifen;YANG Qingxiang;ZHANG Liping(Fuzhou City Neonatal priority Department,Department of Newborn,the First Affiliated Hospital of Fuzhou,Fujian Medical University,Fuzhou,Fujian 350009,China)
出处
《福建医药杂志》
CAS
2020年第5期8-11,共4页
Fujian Medical Journal
基金
福州市卫生计生系统创新团队培肓项目(2018-S-wt1)
福州市2019年市级临床重点专科(新生儿专业)。
