[1]苏跃青 朱文斌 周进福 陈涵强.液相色谱串联质谱技术在新生儿先天性肾上腺皮质增生症筛查的运用[J].福建医药杂志,2020,42(01):13-15.
　SU Yueqing,ZHU Wenbin,ZHOU Jinfu,et al.Application of liquid chromatography tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia[J].FUJIAN MEDICAL JOURNAL,2020,42(01):13-15.
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液相色谱串联质谱技术在新生儿先天性肾上腺皮质增生症筛查的运用()
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《福建医药杂志》[ISSN:1002-2600/CN:35-1071/R]

卷:
42
期数:
2020年01期
页码:
13-15
栏目:
临床研究
出版日期:
2020-03-30

文章信息/Info

Title:
Application of liquid chromatography tandem mass spectrometry in newborn screening for congenital adrenal hyperplasia
文章编号:
1002-2600(2020)01-0013-03
作者:
苏跃青 朱文斌 周进福 陈涵强1
福建医科大学附属医院 福建省妇幼保健院(福州 350001)
Author(s):
SU Yueqing;  ZHU Wenbin; ZHOU Jinfu; CHEN Hanqiang.
Fujian Maternity and Children Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350001,China
关键词:
LC-MS/MS技术;  先天性肾上腺皮质增生症;  17-羟孕酮;  21-脱氧皮质醇
Keywords:
LC-MS/MS method;  congenital adrenal hyperplasia;  17-hydroxyprogesterone;  21-deoxycortisol
分类号:
R722.1
文献标志码:
A
摘要:
目的 采用液相色谱串联质谱(LC-MS/MS)技术,对传统新生儿先天性肾上腺皮质增生症(CAH)筛查方法进行改进。方法 对73例时间分辨荧光法(TRFIA)初筛异常的疑似CAH患儿,先用基因分析技术为诊断标准分为CYP21A2基因突变患者、携带者和非CAH21新生儿,再用LC-MS/MS测定17-羟孕酮(17-OHP)和21-脱氧皮质醇(21-DF)浓度,最后比较LC-MS/MS技术与TRFIA法的差异。结果 73例研究对象中,CAH21患者6例,携带者9例,非CAH21新生儿58例。LC-MS/MS法的17-OHP浓度1.65～218.63 ng/mL,21-DF浓度0.112～23.300 ng/mL; 其中,CAH21患儿的17-OHP浓度显著高于携带者或非CAH21新生儿(均P<0.001); 21-DF浓度:CAH21患儿>携带者>非CAH21新生儿(分别P<0.001和P<0.05)。Deming 回归和Bland-Altman偏差分析:LC-MS/MS技术与TRFIA法检测结果的关联性良好,但后者明显高于前者。根据LC-MS/MS技术检测正常人群上述两指标的参考范围,前者假阳性27例,为TRFIA法40.30%; 后者假阳性13例,为TRFIA法19.40%。结论 LC-MS/MS技术应用对初筛阳性的疑似CAH患儿进行原干血片测定17-OHP和 21-DF浓度,可降低TRFIA过高的假阳性率。
Abstract:
Objective To improve newborn screening method for congenital adrenal hyperplasia(CAH21)using liquid chromatography-tandem mass spectrometry(LC-MS/MS)method.Methods In total, 73 CAH suspects using classical time-resolved fluoroimmunoassay(TRFIA)were enrolled and collected their original dry blood samples.CYP21A2 mutations among all participants were assessed as confirmatory tests for CAH21patients.LC-MS/MS method was used to further measure the 17-hydroxyprogesterone(17-OHP)and 21-deoxycortisol(21-DF).Results Gene analysis confirmed that there were 6 CAH21 patients, 9 carriers and 58 newborns of none CYP21A2 mutation in73 CAH suspects.The concentrations of 17-OHP and 21-DF in all participants using LC-MS/MS were range from 1.65 ng/mL to 218.63ng/mL and 0.112 ng/mL to 23.300 ng/mL, respectively.Comparing with carriers or newborns of none CYP21A2 mutation, the 17-OHP in CAH patients increased significantly(both P<0.001).Whereas, concentration of 21-DF in CAH patients>mutation carriers>CAH21 negative newborns(P<0.001 and P<0.05, respectively).Deming regression analysis method and Bland-Altman plot showed that there was a good correlation in 17-OHP concentrations between using LC-MS/MS and using TRFIA.According the reference range of 17-OHP and 21-DF by LC-MS/MS in normal newborns, 40.30% and 19.40% of false-positive results were remained, compared with that by TRFIA, respectively.Conclusion Additional test of 17-OHP and 21-DF in original dried blood spots of newborns who have a positive initial screening using LC-MS/MS method are effective to reduce the ratio of false positive.

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备注/Memo

备注/Memo:
基金项目: 福建省自然科学基金资助项目(2016J01489)1 通信作者
更新日期/Last Update: 2020-03-30