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[1]嚴 爭 劉 凡 陳 珊 陳 俊 黃青蘭 危 夷 鄭麗芬 楊清香 張麗萍.新生兒不同程度高膽紅素與G6PD基因突變關(guān)系的研究[J].福建醫(yī)藥雜志,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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新生兒不同程度高膽紅素與G6PD基因突變關(guān)系的研究()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
42
期數(shù):
2020年05期
頁碼:
8-10
欄目:
臨床研究
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
文章編號:
1002-2600(2020)05-0008-04
作者:
嚴 爭 劉 凡 陳 珊1 陳 俊 黃青蘭 危 夷 鄭麗芬 楊清香 張麗萍
福建醫(yī)科大學附屬福州市第一醫(yī)院新生兒科(福州 350009)
Author(s):
YAN ZhengLIU FanCHEN ShanCHEN JunHUANG QinglanWEI YiZHENG LifenYANG QingxiangZHANG Liping
Fuzhou City Neonatal priority Department,Department of Newborn, the First Affiliated Hospital of Fuzhou, Fujian Medical University, Fuzhou, Fujian 350009, China
關(guān)鍵詞:
高膽紅素血癥 G6PD突變 顱腦MRI aEEG BAEP NBNA評分
Keywords:
hyperbilirubinemia G6PD mutation brain MRI aEEG BAEP NBNA score
分類號:
R722
文獻標志碼:
B
摘要:
目的 探討新生兒不同程度高膽紅素與血清G6PD基因突變類型的關(guān)系以及嚴重高膽紅素血癥腦損傷早期診斷及病情判斷,為預測新生兒高膽紅素血癥腦損傷提供依據(jù)。 方法 對我院558例高膽紅素血癥患兒進行G6PD缺失篩查,其中53例基因缺失,對這些基因缺失患兒進行分組,分析G6PD基因G1388A和G1376T突變與高膽紅素程度的關(guān)系; 同時分析不同程度高膽紅素血癥與顱腦MRI、振幅整合腦電圖(aEEG)、腦干聽覺誘發(fā)電位(BAEP)和新生兒NBNA評分的關(guān)系。 結(jié)果 1)高膽紅素患兒53例G6PD基因缺失,其中G1376T突變24例(45.3%),G1388A突變13例(24.5%),其余16例未定型; 不同程度高膽紅血素患兒與基因型G1388A或G1376T比較差異無統(tǒng)計學意義(P>0.05); 突變型G1388A和G1376T與無G6PD缺失型對比,G6PD活性降低和首次黃疸出現(xiàn)時間更快(P<0.05)。2)不同程度高膽紅素組顱腦MRI、aEEG、BAEP和新生兒NBNA評分比較差異有統(tǒng)計學意義; 高膽紅素組異常率高于中低膽紅素組(P<0.05),中膽紅素組異常率高于低膽紅素組(P<0.05)。 結(jié)論 G1388A和G1376T是福州地區(qū)G6PD基因缺失最常見的兩種突變形式。黃疸嚴重情況,顱腦MRI、aEEG、BAEP和新生兒NBNA評分有助于高膽紅素血癥腦損傷的早期診斷及預后判定。
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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備注/Memo

備注/Memo:
基金項目:福州市衛(wèi)生計生系統(tǒng)創(chuàng)新團隊培肓項目(2018-S-wt1); 福州市2019年市級臨床重點專科(新生兒專業(yè)) 1 福建醫(yī)科大學附屬協(xié)和醫(yī)院
更新日期/Last Update: 2020-10-20