河北医科大学学报 ›› 2021, Vol. 42 ›› Issue (3): 309-313.doi: 10.3969/j.issn.1007-3205.2021.03.013

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石家庄地区新生儿原发性肉碱缺乏症串联质谱筛查结果分析

  

  1. 河北省石家庄市妇幼保健院新生儿疾病筛查诊治中心，河北 石家庄 050051
  • 出版日期:2021-03-25 发布日期:2021-04-01
  • 作者简介:贾立云(1985-)，女，河北石家庄人，河北省石家庄市妇幼保健院主管检验师，医学硕士，从事遗传代谢病筛查、诊治及分子机制研究。
  • 基金资助:
    河北省医学科学研究重点课题（20191423）

Analysis of screening results of tandem mass spectrometry for neonates with primary carnitine deficiency in Shijiazhuang area

  1. Department of Newborn Disease Screening and Treatment Center， Shijiazhuang Maternal and
    Child Health Hospital, Hebei Province， Shijiazhuang 050051, China
  • Online:2021-03-25 Published:2021-04-01

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摘要： 目的  明确原发性肉碱缺乏症在石家庄地区新生儿中的患病率，进一步分析其基因突变情况。
方法  采用串联质谱技术对新生儿进行血游离肉碱及酰基肉碱检测，对疑似患儿进行肉碱转运蛋白基因突变检测。
结果  160 061例新生儿中确诊17例，其中原发性肉碱缺乏症9例，患病率为1/17 785；母源性肉碱缺乏症8例。9例原发性肉碱缺乏症患儿血游离肉碱初筛值为4.47(1.77~6.78) μmol/L，召回复查值为4.83(2.80~7.32) μmol/L，均伴有多种酰基肉碱水平下降；8例母源性肉碱缺乏症患儿初筛值为4.52(2.70~7.93) μmol/L，召回复查值为6.09(4.14~10.04) μmol/L。9例原发性肉碱缺乏症患儿中，4例进行了SLC22A5基因检测，其中复合杂合1例、纯合1例、杂合2例，基因突变分析发现了4种突变位点：c.865C＞T、c.1400C＞G、c.428C＞T和c.1462C＞T。
结论  串联质谱技术应用于新生儿疾病筛查可及早发现原发性肉碱缺乏症；石家庄地区原发性肉碱缺乏症的患病率为1/17 785；发现了4种SLC22A5基因突变位点。

关键词: 原发性肉碱缺乏症, 串联质谱, 新生儿

Abstract: Objective  To determine the prevalence of primary carnitine deficiency(PCD) in neonates in Shijiazhuang area, and to further analyze the genetic mutations.
Methods  Tandem mass spectrometry was used to detect the blood free carnitine and acylcarnitine in neonates,and carnitine transporter gene mutation was detected in suspected children.
Results  A total 160 061 neonates, 17 were diagnosed, including 9 children with PCD(prevalence rate was 1/17 785), and 8 children with maternal carnitine deficiency. 〖JP2〗Nine children with PCD had a primary screening value of blood free carnitine of 4.47(1.77-6.78) μmol/L, and a recall of 4.83(2.80-7.32) μmol/L,〖JP〗 accompanied by a decrease in the levels of various acylcarnitines. Among 9 children with PCD, 4 cases were tested for SLC22A5 gene, 〖JP2〗including 1 compound heterozygous, 1 homozygous and 2 heterozygous. Gene mutation analysis revealed 4 mutation sites: c.865C>T, c.1400C>G, c.428C>〖JP〗T and c.1462C>T.
Conclusion  Application of tandem mass spectrometry in neonatal disease screening can detect PCD early. The prevalence of PCD in Shijiazhuang area is 1/17 785; 4 mutation sites of SLC22A5 gene are found.

Key words: primary carnitine deficiency, tandem mass spectrometry, neonates

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