广西壮族自治区柳州市壮族高胆红素血症新生儿G6PD缺陷及基因突变特点分析  

Characteristics analysis of G6PD defect and gene mutation in Zhuang nationality hyperbilirubinemia neonates in Liuzhou, Guangxi Zhuang Autonomous Region

作　　者：刘艳萍[1] 李可成 黄婷 谢梦月 潘莉珍 陈大宇 LIU Yanping;LI Kecheng;HUANG Ting;XIE Mengyue;PAN Lizhen;CHEN Dayu(Department of Clinical Laboratory,Liuzhou Municipal People’s Hospital,Guangxi Zhuang Autonomous Region,Liuzhou545001,China;Pediatric Genetics,Liuzhou Maternal and Child Healthcare Hospital,Guangxi Zhuang Autonomous Region,Liuzhou545001,China)

机构地区：[1]广西壮族自治区柳州市人民医院检验科,广西柳州545001 [2]广西壮族自治区柳州市妇幼保健院遗传科,广西柳州545001

出　　处：《中国医药导报》2023年第3期29-32,共4页China Medical Herald

基　　金：广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z20170530);广西壮族自治区柳州市科技重大专项项目(2018AF10501)。

摘　　要：目的 分析广西壮族自治区柳州市壮族高胆红素血症新生儿葡萄糖-6-磷酸脱氢酶(G6PD)活性及基因突变类型,探讨其在少数民族地区高胆红素血症诊疗中的价值。方法 选取2018年6月至2021年6月广西壮族自治区柳州市妇幼保健院确诊为高胆红素血症的壮族足月新生儿353例为研究对象,分析其总胆红素、G6PD活性和基因突变类型的频次及发生率。结果 353例高胆红素血症患儿G6PD活性缺乏86例(24.36%)。114例(32.29%)患儿发生G6PD基因突变,男性半合子70例,女性纯合子4例,女性复合杂合子9例,女性杂合子31例。最高频次突变的位点为c.1388G>A。总胆红素水平与G6PD活性呈负相关(r=-0.65,P<0.05)。结论 G6PD缺乏症是广西壮族自治区柳州地区新生儿高胆红素血症的重要因素;G6PD突变位点具有一定的地区和民族特征;通过联合分析高胆红素血症新生儿的胆红素水平、G6PD活性及基因突变特征,可为临床诊断提供诊疗依据。Objective To analyze the activity and gene mutation types of glucose-6-phosphate dehydrogenase(G6PD) in neonates with hyperbilirubinemia in Liuzhou, Guangxi Zhuang Autonomous region, and to explore its value in the diagnosis and treatment of hyperbilirubinemia in ethnic minority areas. Methods A total of 353 full-term neonates diagnosed with hyperbilirubinemia from June 2018 to June 2021 in Liuzhou Maternal and Child Healthcare Hospital of Guangxi Zhuang Autonomous Region were selected as the study subjects, the total bilirubin, activities and the frequency and incidence of gene mutation types of G6PD were analyzed. Results In 353 hyperbilirubinemia children, 86 cases(24.36%) lacked G6PD activity. A total of 114 patients(32.29%) had genetic mutations, among them, there were 70 male hemizygotes, 4 female homozygotes, 9 female compound heterozygotes, and 31 female heterozygotes. The most frequent mutation site was c.1388G>A. Total bilirubin level was negatively correlated with G6PD activity(r=-0.65, P<0.05). Conclusion G6PD deficiency is an important factor of neonatal hyperbilirubinemia in Liuzhou, Guangxi Zhuang Autonomous Region;the mutation sites of G6PD had certain regional and ethnic characteristics. Through the combined analysis of bilirubin level, G6PD activity and gene mutation characteristics of neonates with hyperbilirubinemia, it can provide the basis for clinical diagnosis and treatment.

关 键 词：壮族 高胆红素血症 新生儿 葡萄糖-6-磷酸脱氢酶 基因突变 

分 类 号：R722.17[医药卫生—儿科]