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[1]蘇躍青 朱文斌 周進(jìn)福 陳涵強.液相色譜串聯(lián)質(zhì)譜技術(shù)在新生兒先天性腎上腺皮質(zhì)增生癥篩查的運用[J].福建醫(yī)藥雜志,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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液相色譜串聯(lián)質(zhì)譜技術(shù)在新生兒先天性腎上腺皮質(zhì)增生癥篩查的運用()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
42
期數(shù):
2020年01期
頁碼:
13-15
欄目:
臨床研究
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
文章編號:
1002-2600(2020)01-0013-03
作者:
蘇躍青 朱文斌 周進(jìn)福 陳涵強1
福建醫(yī)科大學(xué)附屬醫(yī)院 福建省婦幼保健院(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
關(guān)鍵詞:
LC-MS/MS技術(shù);  先天性腎上腺皮質(zhì)增生癥;  17-羥孕酮;  21-脫氧皮質(zhì)醇
Keywords:
LC-MS/MS method;  congenital adrenal hyperplasia;  17-hydroxyprogesterone;  21-deoxycortisol
分類號:
R722.1
文獻(xiàn)標(biāo)志碼:
A
摘要:
目的 采用液相色譜串聯(lián)質(zhì)譜(LC-MS/MS)技術(shù),對傳統(tǒng)新生兒先天性腎上腺皮質(zhì)增生癥(CAH)篩查方法進(jìn)行改進(jìn)。方法 對73例時間分辨熒光法(TRFIA)初篩異常的疑似CAH患兒,先用基因分析技術(shù)為診斷標(biāo)準(zhǔn)分為CYP21A2基因突變患者、攜帶者和非CAH21新生兒,再用LC-MS/MS測定17-羥孕酮(17-OHP)和21-脫氧皮質(zhì)醇(21-DF)濃度,最后比較LC-MS/MS技術(shù)與TRFIA法的差異。結(jié)果 73例研究對象中,CAH21患者6例,攜帶者9例,非CAH21新生兒58例。LC-MS/MS法的17-OHP濃度1.65～218.63 ng/mL,21-DF濃度0.112～23.300 ng/mL; 其中,CAH21患兒的17-OHP濃度顯著高于攜帶者或非CAH21新生兒(均P<0.001); 21-DF濃度:CAH21患兒>攜帶者>非CAH21新生兒(分別P<0.001和P<0.05)。Deming 回歸和Bland-Altman偏差分析:LC-MS/MS技術(shù)與TRFIA法檢測結(jié)果的關(guān)聯(lián)性良好,但后者明顯高于前者。根據(jù)LC-MS/MS技術(shù)檢測正常人群上述兩指標(biāo)的參考范圍,前者假陽性27例,為TRFIA法40.30%; 后者假陽性13例,為TRFIA法19.40%。結(jié)論 LC-MS/MS技術(shù)應(yīng)用對初篩陽性的疑似CAH患兒進(jìn)行原干血片測定17-OHP和 21-DF濃度,可降低TRFIA過高的假陽性率。
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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備注/Memo

備注/Memo:
基金項目: 福建省自然科學(xué)基金資助項目(2016J01489)1 通信作者
更新日期/Last Update: 2020-03-30