[1]严 争 刘 凡 陈 珊 陈 俊 黄青兰 危 夷 郑丽芬 杨清香 张丽萍.新生儿不同程度高胆红素与G6PD基因突变关系的研究[J].福建医药杂志,2020,42(05):8-10.
　YAN Zheng,LIU Fan,CHEN Shan,et al.Correlation between different levels of high bilirubin and G6PD gene mutations in neonates[J].FUJIAN MEDICAL JOURNAL,2020,42(05):8-10.
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新生儿不同程度高胆红素与G6PD基因突变关系的研究()
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《福建医药杂志》[ISSN:1002-2600/CN:35-1071/R]

卷:
42
期数:
2020年05期
页码:
8-10
栏目:
临床研究
出版日期:
2020-10-20

文章信息/Info

Title:
Correlation between different levels of high bilirubin and G6PD gene mutations in neonates
文章编号:
1002-2600(2020)05-0008-04
作者:
严 争 刘 凡 陈 珊1 陈 俊 黄青兰 危 夷 郑丽芬 杨清香 张丽萍
福建医科大学附属福州市第一医院新生儿科(福州 350009)
Author(s):
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
关键词:
高胆红素血症;  G6PD突变;  颅脑MRI;  aEEG;  BAEP;  NBNA评分
Keywords:
hyperbilirubinemia;  G6PD mutation;  brain MRI;  aEEG;  BAEP;  NBNA score
分类号:
R722
文献标志码:
B
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。
Abstract:
Objective To explore the relationship between different levels of high bilirubin and the type of serum G6PD 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 G6PD gene G1388A and G1376T 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 G6PD gene deletion, of which 24 were G1376T mutations and 13 were G1388A mutations, accounting for 45.3% and 24.5%, respectively.The remaining 16 cases were undefined.There was no significant difference between the mutant G1388A or G1376T and the children with different levels of high bilirubin(P>0.05).Compared with the children without G6PD deficiency, mutations G1388A and G1376T showed decreased G6PD 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 G1388A and G1376T are the two most common mutations of G6PD 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.

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备注/Memo

备注/Memo:
基金项目: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) 1 福建医科大学附属协和医院
更新日期/Last Update: 2020-10-20