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广州市增城区高危新生儿遗传性代谢疾病的筛查情况分析 被引量:1

Screening Analysis of Genetic Metabolic Diseases in High-risk Neonates in Zengcheng District,Guangzhou City
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摘要 目的分析广州市增城区高危新生儿遗传性代谢疾病(IMD)的筛查情况,并分析当地遗传代谢病的发生特点及发生率。方法选取广州市增城区2016年1月至2021年1月收集的128例新生儿尿液及血液样本作为研究对象,应用串联质谱技术对样本进行筛查,明确新生儿是否存在IMD及具体情况。结果本次128例新生儿样本中,确诊为IMD的共计5例,阳性率为3.91%(5/128)。其中2例甲基丙二酸血症,占比1.56%(2/128),丙酸血症、苯丙酮尿症、半乳糖血症各1例,分别占比0.78%(1/128);男、女新生儿发病率组间比较差异无统计学意义(P>0.05)。结论目前,临床中新生儿IMD发生率显著提升,疾病容易对新生儿器官、系统和健康造成严重影响,同时考虑部分类型疾病通过饮食控制和药物干预后可获得理想的治疗效果,有助于改善患儿预后,因此建议本地具有一种及以上高危因素或是相关临床表现患儿及时进行IMD疾病筛查,能够为后续指导提供及时可靠的依据。 Objective To analyze the screening of high-risk neonatal inherited metabolic diseases(IMD)in Zengcheng district,Guangzhou,and analyze the occurrence characteristics and incidence of local genetic metabolic diseases.Methods Urine and blood samples of 128 newborns collected from January 2016 to January 2021 in Zengcheng district,Guangzhou city were selected as the research objects,and the samples were screened using tandem mass spectrometry technology to determine whether the newborns have IMD and the specific conditions.Results Among the 128 newborn samples,5 cases were diagnosed as IMD,and the positive rate was 3.91%(5/128).Among them,2 cases of methylmalonic acidemia accounted for 1.56%(2/128),and 1 case of propionic acidemia,phenylketonuria,and galactosemia each accounted for 0.78%(1/128);There was no significant difference in the incidence of male and female newborns between the groups(P>0.05).Conclusion At present,the incidence of neonatal IMD in clinics has increased significantly,and the disease is likely to cause serious effects on neonatal organs,systems and health.At the same time,it is considered that some types of diseases can obtain ideal therapeutic effects through diet control and drug intervention,which will help improve the disease.Therefore,it is recommended that local children with one or more high-risk factors or related clinical manifestations undergo IMD disease screening in time,which can provide timely and reliable basis for follow-up guidance.
作者 张磊 唐建平 张璐 ZHANG Lei;TANG Jianping;ZHANG Lu(Zengcheng District Maternal and Child Health Hospital in Guangzhou City,Guangzhou 511300,China)
出处 《中国医药指南》 2021年第15期110-111,共2页 Guide of China Medicine
关键词 遗传性代谢疾病 高危婴幼儿 疾病筛查 阳性率 串联质谱技术 Inherited metabolic diseases High-risk infants and young children Disease screening Positive rate Tandem mass spectrometry technology
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