梅州市新生儿遗传代谢病串联质谱筛查及随访结果分析

刘小瑜，吴维，石玲

【摘要】目的研究串联质谱技术在梅州地区新生儿遗传代谢病筛查的应用情况，初步掌握本地区新生儿遗传代谢病发病率及病种分布情况，为建立该地区新生儿遗传代谢病串联质谱筛查体系和临床综合干预模式提供参考。方法对2019年4月～2021年7月在梅州市出生的47 145例新生儿应用串联质谱技术进行遗传代谢病筛查，对可疑阳性患儿召回复查，辅助生化检查、家系基因检测，明确诊断，随访治疗。结果共筛查47 145例新生儿，初筛阳性1489例（3.16%）。確诊患儿11例，总发病率1/4286。筛查出7种遗传代谢病，分别是高苯丙氨酸血症4例，原发性肉碱缺乏症2例，母源性肉碱缺乏症、甲基丙二酸血症、丙酸血症、异丁酰辅酶A脱氢酶缺乏症、希特林蛋白缺乏症各1例。结论通过串联质谱技术进行新生儿遗传代谢病筛查、及早诊疗可有效保障患儿健康，是预防出生缺陷的重要手段，对提高人口质量意义重大。

【关键词】新生儿疾病筛查;串联质谱;遗传代谢病

中图分类号：R722文献标志码：ADOI：10.3969/j.issn.1003-1383.2021.11.006

Analysis of tandem mass spectrometry screening and follow-up results of

neonatal genetic metabolic disorders in Meizhou

LIU Xiaoyua， WU Weib， SHI Lingb

（a.Child Healthcare Department， b. Medical Heredity Center， Maternal and Child Health Care and Family Planning

Service Center of Meizhou—Meizhou Women' s and Children's Hospital， Meizhou 514021， Guangdong， China）

【Abstract】ObjectiveTo study the application of tandem mass spectrometry for the screening of neonatal genetic metabolic disorders in Meizhou， and to gain a preliminary understanding of the incidence and distribution of genetic metabolic disorders in neonates in the region， so as to provide a reference for the establishment of a tandem mass spectrometry screening system and a comprehensive clinical intervention model for neonatal genetic metabolic diseases in the region. MethodsTandem mass spectrometry was applied to screen 47 145 newborns born in Meizhou City from April 2019 to July 2021 for genetic metabolic diseases， and children with suspected positive cases were recalled for review， adjuvant biochemical tests and family genetic tests were carried out to clarify the diagnosis and follow up treatment. ResultsA total of 47 145 newborns were screened and 1489 （3.16%） were initially screened positive. There were 11 confirmed cases， with a total incidence of 1/4286. 7 genetic metabolic disorders were screened： hyperphenylalaninemia （4 cases）， primary carnitine deficiency （2 cases ）， maternal carnitine deficiency（1 case）， methylmalonic acidemia（1 case）， propionic acidemia （1 case）， isobutyryl coenzyme A dehydrogenase deficiency （1 case）， and citrin deficiency （1 case）. ConclusionTandem mass spectrometry for the screening of neonatal genetic metabolic disorders and early diagnosis and treatment can effectively protect the health of patients. It is an important means of preventing birth defects， and is of great significance for improving the quality of population.

【Key words】newborn screening; tandem mass spectrometry; inherited metabolic diseases

遗传代谢病（inherited metabolic diseases，IMD）是因遗传基因突变导致体内生化物质在合成、代谢、转运和储存等方面出现各种异常产生的一系列疾病，包括氨基酸、有机酸、脂肪酸、激素等代谢混乱。具有先天性、终生性、家族性的特征[1]。该类疾病临床缺乏特异性表现，可涉及多器官、系统。在临床上，大部分遗传代谢病诊断难度大。遗传代谢病虽然单一病种罕见，但种类多，所以总的发病率较高，在出生缺陷疾病防控中占重要地位，早期診治能有效改善预后。……