烟台市新生儿筛查疾病分子流行病学调查研究  

Molecular Epidemiological Investigation of Newborn Screening Diseases in Yantai

作　　者：吕志萍[1] 刘春丽[1] 赵善娜[1] Lyu Zhi-ping;Liu Chun-li;Zhao Shan-na(Department of Laboratory Medicine,Yantai Mountain Hospital,Yantai 264008 Shandong Province,China)

机构地区：[1]山东省烟台市烟台山医院检验科,山东烟台264008

出　　处：《中外医药研究》2022年第16期151-153,共3页JOURNAL OF CHINESE AND FOREIGN MEDICINE AND PHARMACY RESEARCH

基　　金：烟台市科技局计划项目(编号:2022YD051)。

摘　　要：目的:进行烟台市新生儿疾病分子流行病学筛查,分析阳性患儿发病率及基因突变情况。方法:回顾性分析1998年8月-2021年12月烟台市出生的新生儿1147353例病历资料。2014年1月启动串联质谱筛查103321例。结果:在1147353例新生儿四病筛查中确诊先天性甲状腺功能减低症(CH)1203例,苯丙酮尿症131例,先天性肾上腺皮质增生症37例,葡萄糖-6磷酸脱氢酶缺乏症192例,发病率分别是1/984、1/8758、1/31010、1/5976。在103321例新生儿串联质谱筛查中发现了36例遗传代谢病,发病率1/2870。确诊的95例阳性患儿中检测出104种基因突变类型,分布在多个病种。结论:烟台市四病发病率最高的是CH,遗传代谢病发病率最高的甲基丙二酸血症。阳性病例基因检测初步构建了部分疾病基因突变谱,为进一步探索疾病的病因提供依据。Objective:To conduct molecular epidemiological screening of neonatal diseases in Yantai City,and analyze the inci⁃dence rate and gene mutation of positive children.Methods:The medical records of 1147353 neonates born in Yantai from August 1998 to December 2021 were retrospectively analyzed.In January 2014,103,321 cases were screened by tandem mass spectrom⁃etry.Results:1203 cases of congenital hypothyroidism(CH)were diagnosed in 1147353 neonates screened for four diseases.There were 131 cases of phenylketonuria,37 cases of congenital adrenal hyperplasia,and 192 cases of glucose-6 phosphate dehy⁃drogenase deficiency.The incidence rates were 1/984,1/8758,1/31010,and 1/5976 respectively.In 103321 neonates screened by tandem mass spectrometry,36 cases of inherited metabolic diseases were found,with an incidence rate of 1/2870.104 gene mu⁃tation types were detected in 95 confirmed positive children,distributed in multiple diseases.Conclusion:The incidence rate of the four diseases in Yantai City is CH,and the highest incidence rate of genetic metabolic diseases is methylmalonic acidemia.Ge⁃netic testing of positive cases has preliminarily constructed a partial disease gene mutation spectrum,which provides a basis for further exploration of the etiology of the disease.

关 键 词：新生儿筛查 遗传代谢病 发病率 基因突变 

分 类 号：R72[医药卫生—儿科]