广东省佛山地区2018-2023年新生儿遗传代谢性疾病筛查现状分析  

Analysis of the Current Status of Neonatal Genetic Metabolic Disease Screening in Foshan Area of Guangdong Province From 2018 to 2023

作　　者：邵巧仪[1] 袁伟曦 余丰[1] 张伟 岳梦婷[1] 苏晞[1] 黄湘 SHAO Qiao-yi;YUAN Wei-xi;YU Feng;ZHANG Wei;YUE Meng-ting;SU Xi;HUANG Xiang(Neonatal Disease Screening Center,Foshan Maternal and Child Health Hospital,Foshan,Guangdong,528000,China)

机构地区：[1]佛山市妇幼保健院新生儿疾病筛查中心,广东佛山528000

出　　处：《现代生物医学进展》2024年第21期4107-4109,4077,共4页Progress in Modern Biomedicine

基　　金：2022年度广东省基础与应用基础研究基金企业联合基金(公共卫生与医药健康领域)计划项目(2022A1515220141)。

摘　　要：目的:分析广东省佛山地区2018-2023年新生儿遗传代谢性疾病(MD)筛查现状。方法:分析329873例新生儿的MD筛查状况、MD患儿确诊情况、MD患儿基因突变情况及氨基酸结构变化。结果:胎龄≤32w、性别为男及体重≤1500 g的患儿初筛阳性的比例分别相对胎龄33~36w、≥37w、性别为女及体重1501~2499 g、>2500 g的患儿更高(P<0.05)。各类MD患儿中,发病例数前三的疾病为原发性肉碱缺乏症、希特林蛋白缺乏症及3-甲基巴豆酰辅酶A脱氢酶缺乏症。发生基因突变的患儿包括希特林蛋白缺乏症SLC25A13基因的c.852_855delTATG突变位点、原发性肉碱缺乏症SLC22A5基因的c.51C>G突变位点、瓜氨酸血症I型ASS1基因的c.1087C>T突变位点。除丙酸血症及鸟氨酸氨甲酰转移酶缺乏症患儿各含1例X连锁显性遗传(XL)遗传方式外,其余患儿的遗传方式均为常染色体隐性(AR)。结论:广东省佛山地区2018-2023年新生儿MD筛查中发病风险较大的是原发性肉碱缺乏症、希特林蛋白缺乏症及3-甲基巴豆酰辅酶A脱氢酶缺乏症。其中希特林蛋白缺乏症、原发性肉碱缺乏症、瓜氨酸血症均较易产生基因突变,且主要通过AR方式进行遗传。Objective:To analyze the current status of neonatal genetic metabolic disease(MD)screening in Foshan area of Guangdong Province from 2018 to 2023.Methods:The MD screening status of 329873 newborns,the diagnosis of MD children,the gene mutation of MD children and the changes of amino acid structure were analyzed.Results:The proportion of positive screening in children with gestational age≤32 w,male sex and weight≤1500 g were higher than those in children with gestational age of 33-36w,≥37 w,female sex and weight of 1501-2499 g and>2500 g(P<0.05).Among all kinds ofMD children,the top three diseases were primary carnitine deficiency,Hitlin protein deficiency and 3-methylcrotonyl-CoA dehydrogenase deficiency.The children with gene mutations included the c.852_855delTATG mutation site of SLC25A13 gene in Citrine protein deficiency,the c.51C>G mutation site of SLC22A5 gene in primary carnitine deficiency,and the c.1087C>T mutation site of citrullinemia type I ASS1 gene.Except for one case of X-linked dominant inheritance(XL)in children with propionic acidemia and one case of ornithine carbamyl transferase deficiency,the inheritance patterns of the other children were autosomal recessive(AR).Conclusion:The high-risk areas for neonatal MD screening in Foshan,Guangdong Province from 2018 to 2023 are primary carnitine deficiency,hitlin protein deficiency,and 3-methylcrotonyl-CoA dehydrogenase deficiency.And hitlin protein deficiency,primary carnitine deficiency,and citrullinemia are all prone to genetic mutations,and are mainly inherited through AR mode.

关 键 词：佛山地区 新生儿 遗传代谢性疾病 筛查 

分 类 号：R722.11[医药卫生—儿科]