3228例疑似遗传代谢病串联质谱检测结果和临床分析(1)
【摘要】 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。
【关键词】 串联质谱技术;遗传代谢病
中图分类号：R725.8 文献标志码：A DOI：10.3969/j.issn.1003-1383.2019.08.004
【Abstract】 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.
【Key words】 tandem mass spectrometry;hereditary metabolic diseases
串聯质谱检测技术(tandem mass spectrometry，MS/MS)是一种特异性的生化代谢物测定技术，通过测定物质的质荷比及相应离子强度，对物质进行定性和定量分析。 MS/MS技术能对干血滤纸片上微量血一次进行数十种氨基酸、有机酸、脂肪酸代谢异常的遗传代谢性疾病以及尿素循环障碍疾病进行检测[1]，MS/MS超敏、高特异、快速，已广泛应用于遗传代谢病筛查，本研究用串联质谱技术对3228例样本进行检测，结合实验室其他指标和临床表现，效果满意，现报告如下。
1 资料与方法1.1 临床资料 检测对象为2018年4月～2019年5月在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，疑似患儿均有程度不等的喂养困难、反复呕吐、抽搐、黄疸、肝脾肿大、肌张力异常、精神运动发育迟缓、低血糖、高血氨、代谢性酸中毒、肝功能损害等。其中新生儿疾病筛查3084例(男175，例，女1329例)，疑似遗传代谢病患儿144例(男85例，女59例)。3228例患儿年龄分布：2天～1个月 3084例，～3个月 31例，～6个月 22例，～1岁 23例，～12岁68例。
1.2 研究方法
1.2.1 标本采集 出生的新生儿满48 h并充分哺乳8次以上，采集足跟血制成干滤血片，共采集4个血斑，每个血斑直径≥8 mm，将血片悬空平置并常温下充分阴干，统一送到新生儿疾病筛查中心备检。疑似遗传病患儿采血方法和送检同上。均在家属知情同意下进行样本采集和检测。, 百拇医药(杨潍嘉 蒋庆安 巫玉峰 黄开明 胡卫 秦盛贝)
【关键词】 串联质谱技术;遗传代谢病
中图分类号：R725.8 文献标志码：A DOI：10.3969/j.issn.1003-1383.2019.08.004
【Abstract】 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.
【Key words】 tandem mass spectrometry;hereditary metabolic diseases
串聯质谱检测技术(tandem mass spectrometry，MS/MS)是一种特异性的生化代谢物测定技术，通过测定物质的质荷比及相应离子强度，对物质进行定性和定量分析。 MS/MS技术能对干血滤纸片上微量血一次进行数十种氨基酸、有机酸、脂肪酸代谢异常的遗传代谢性疾病以及尿素循环障碍疾病进行检测[1]，MS/MS超敏、高特异、快速，已广泛应用于遗传代谢病筛查，本研究用串联质谱技术对3228例样本进行检测，结合实验室其他指标和临床表现，效果满意，现报告如下。
1 资料与方法1.1 临床资料 检测对象为2018年4月～2019年5月在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，疑似患儿均有程度不等的喂养困难、反复呕吐、抽搐、黄疸、肝脾肿大、肌张力异常、精神运动发育迟缓、低血糖、高血氨、代谢性酸中毒、肝功能损害等。其中新生儿疾病筛查3084例(男175，例，女1329例)，疑似遗传代谢病患儿144例(男85例，女59例)。3228例患儿年龄分布：2天～1个月 3084例，～3个月 31例，～6个月 22例，～1岁 23例，～12岁68例。
1.2 研究方法
1.2.1 标本采集 出生的新生儿满48 h并充分哺乳8次以上，采集足跟血制成干滤血片，共采集4个血斑，每个血斑直径≥8 mm，将血片悬空平置并常温下充分阴干，统一送到新生儿疾病筛查中心备检。疑似遗传病患儿采血方法和送检同上。均在家属知情同意下进行样本采集和检测。, 百拇医药(杨潍嘉 蒋庆安 巫玉峰 黄开明 胡卫 秦盛贝)