| 邵巧仪,袁伟曦,余 丰,张 伟,岳梦婷,苏 晞,黄 湘.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[J].,2024,(21):4107-4109 |
| 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 |
| 投稿时间：2024-06-05 修订日期：2024-06-30 |
| DOI：10.13241/j.cnki.pmb.2024.21.019 |
| 中文关键词: 佛山地区 新生儿 遗传代谢性疾病 筛查 |
| 英文关键词: Foshan area Newborns Genetic metabolic diseases Screening |
| 基金项目: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） |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| ABSTRACT 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 of MD 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. |
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