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新生儿筛查假阳性：产前使用头孢托仑匹伏酯治疗导致新生儿C5-肉碱升高

[False positive on neonatal screening: C5-carnitin increase in newborns due to pre-labour treatment with cefditoren pivoxil].

作者信息

Fernández Ruano Miguel L, Besga García Beatriz, Montero Plata Almudena, Dulín Íñiguez Elena

机构信息

Laboratorio de Cribado Neonatal (Programa de Cribado Neonatal de la Comunidad de Madrid). Hospital General Universitario Gregorio Marañón. Madrid. España.

出版信息

Rev Esp Salud Publica. 2018 Jun 4;92:e201806025.

PMID:29863107
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11587330/
Abstract

The increase in C5-carnitin (C5) quantified by tandem mass spectrometry allows for early detection of isovaleric acidemia (IVA) in newborns. The administration of pro- drugs like cefditoren pivoxil (CFP) composed by pivalic acid esters also causes increases of C5 in blood. This work shows the experience of the Laboratorio de Cribado Neonatal of the Comunidad de Madrid in the newborn screening for IVA. 418.863 newborns have been analyzed and no cases of IVA have been detected, but there were 18 cases of increase of C5 in newborns from mothers treated with CFP before labour. The concentrations of C5 obtained in these cases were comparable to those from cases diagnosed of IVA in other countries. We also studied the concentration of C5 the blood of a patient who was treated with CFP, in whom we observed an elevation which was restored after treatment was finished. CFP is an antibiotic prescribed to pregnant women in Spain and can cause elevation of C5 in blood that can induce to suspect a case of IVA, causing alarm in the newborn family and forcing to a follow-up.

摘要

通过串联质谱法定量的C5-肉碱（C5）增加有助于新生儿异戊酸血症（IVA）的早期检测。由新戊酸酯组成的前药如头孢妥仑匹酯（CFP）的给药也会导致血液中C5增加。这项工作展示了马德里自治区新生儿筛查实验室在IVA新生儿筛查方面的经验。已分析了418,863名新生儿，未检测到IVA病例，但有18例新生儿母亲在分娩前接受CFP治疗，其C5升高。这些病例中获得的C5浓度与其他国家诊断为IVA的病例相当。我们还研究了一名接受CFP治疗患者血液中的C5浓度，观察到其升高，治疗结束后恢复正常。CFP是西班牙开给孕妇的一种抗生素，可导致血液中C5升高，可能引发对IVA病例的怀疑，引起新生儿家庭恐慌并需要进行随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/cd4bfa555a5a/1135-5727-resp-92-e201806025-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/a4c17d57c201/1135-5727-resp-92-e201806025-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/c1666338ce9d/1135-5727-resp-92-e201806025-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/8892b047b9ef/1135-5727-resp-92-e201806025-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/cd4bfa555a5a/1135-5727-resp-92-e201806025-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/a4c17d57c201/1135-5727-resp-92-e201806025-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/c1666338ce9d/1135-5727-resp-92-e201806025-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/8892b047b9ef/1135-5727-resp-92-e201806025-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/19d4/11587330/cd4bfa555a5a/1135-5727-resp-92-e201806025-g004.jpg

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引用本文的文献

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Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.新生儿异戊酸血症筛查：中国人群中，应用生成戊酸盐的抗生素治疗导致 C5-肉碱假阳性。
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2
A Simple Flow Injection Analysis-Tandem Mass Spectrometry Method to Reduce False Positives of C5-Acylcarnitines Due to Pivaloylcarnitine Using Reference Ions.一种使用参考离子减少因新戊酰肉碱导致的C5-酰基肉碱假阳性的简单流动注射分析-串联质谱法。
Children (Basel). 2022 May 10;9(5):694. doi: 10.3390/children9050694.
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[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.].
[马德里社区新生儿筛查项目：阳性病例评估。]
Rev Esp Salud Publica. 2020 Dec 16;94:e202012185.