3228例疑似遗传代谢病串联质谱检测结果和临床分析

Detection results and clinical analysis of 3228 cases of suspected genetic metabolic diseases by tandem mass spectrometry

目的探讨串联质谱技术在新生儿疾病筛查和高危儿筛查中的意义,初步了解桂林市遗传代谢病的发病率及病种分布情况。方法对2018年4月~2019年5月桂林市妇女儿童医院出生的新生儿和门诊或者住院部疑似遗传代谢病患儿共3228例,应用串联质谱技术进行遗传代谢病筛查,对初筛阳性或者可疑病例召回复查并结合其他检测进行临床分析。结果3228例中,可疑阳性171例,筛查阳性率5.30%,确诊遗传代谢病7例(2.17‰)。分别是苯丙氨酸羟化酶缺乏症3例(0.93‰),母源性肉碱缺乏症1例(0.31‰),同型半胱氨酸血症1例(0.31‰),糖原累积症2例(0.62‰)。结论本研究检出的遗传代谢病发病率较高,检出病种有限,需进一步进行全员、大样本量覆盖到桂林市每个县的新生儿筛查中。

Objective To study the significance of tandem mass spectrometry in the screening of neonatal diseases and high-risk infants,so as to preliminarily understand the incidence and distribution of genetic metabolic diseases in Guilin. Methods From April 2018 to May 2019,3228 newborns who were born in Guilin Women and Children Hospital and children with suspected genetic metabolic diseases in outpatient or inpatient departments were enrolled.The genetic metabolic diseases were screened by tandem mass spectrometry,and positive or suspicious cases were recalled for reexamination and clinical analysis in the combination of other tests. Results Of the 3228 cases,171 were suspicious positive,the positive rate of screening was 5.30%,and 7 cases(2.17‰) were diagnosed as hereditary metabolic diseases.There were 3 cases( 0.93‰) of phenylalanine hydroxylase deficiency,1 case(0.31‰) of maternal carnitine deficiency,1 case(0.31‰) of homocysteinemia,and 2 cases(0.62‰) of glycogen accumulation. Conclusion The incidence of hereditary metabolic diseases detected in this study is high,and the types of diseases detected are limited.It is suggested that more extensive publicity should be given to cover the sample size in the neonatal screening in every county of Guilin.