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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，为提高新生儿MD的筛查、诊断、治疗工作提供参考依据。方法：回顾性分析2018年2月~2023年2月佛山市四区（除顺德区外）出生的新生儿389489例的临床资料，选取其中已进行MD筛查的329873例作为研究对象。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≤1500g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1501~2499g、＞2500g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，发病例数分别为25例、15例及13例。鸟氨酸氨甲酰转移酶缺乏症发病例数最少，为1例。发生基因突变的患儿中，希特林蛋白缺乏症SLC25A13基因的c.852_855delTATG突变位点共发生11次突变，氨基酸结构变化为p.M285Pfs*2。其次为原发性肉碱缺乏症SLC22A5基因的c.51C>G突变位点共发生10次突变，氨基酸结构变化为p.F17L。再次为瓜氨酸血症I型ASS1基因的c.1087C>T突变位点共发生7次突变，氨基酸结构变化为p.R363W。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:

Objective:To analyze the current status of neonatal genetic metabolic disease (MD) screening in Foshan area of Guangdong Province from 2018 to 2023, and to provide reference for improving the screening, diagnosis and treatment of neonatal MD. Methods:The clinical data of 389489 neonates born in the four districts of Foshan City (except Shunde District) from February 2018 to February 2023 were retrospectively analyzed, and 329873 neonates who had undergone MD screening were selected as study subjects. 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≤32w, male sex and weight≤1500g were higher than those in children with gestational age of 33-36w, ≥37w, female sex and weight of 1501-2499g and >2500g (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, with 25 cases, 15 cases and 13 cases respectively. The number of cases of ornithine carbamyl transferase deficiency was the least, 1 case. Among the children with gene mutations, there were 11 mutations in the c.852_855delTATG mutation site of the SLC25A13 gene of hitlin protein deficiency, and the amino acid structure changed to p.M285Pfs*2. There were 10 mutations in the c.51C>G mutation site of the SLC22A5 gene in primary carnitine deficiency, and the amino acid structure changed to p.F17L. The c.1087 C>T mutation site of the ASS1 gene of citrullinemia type I was mutated 7 times, and the amino acid structure was changed to p.R363W. 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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