Abstract

摘要： 本文对国内外新生儿先天性肾上腺皮质增生症筛查及诊断中使用的放射免疫法、酶联免疫法、时间分辨荧光分析法、高效液相色谱法、质谱法及基因诊断等实验方法，分别从技术发展历史、方法学建立、实验技术特点和实验流程等方面进行了综述。分析介绍了各方法的优缺点、实际使用效果和使用范围。通过观察和分析，清晰的勾勒出诸实验方法学的更新发展过程，并进一步展望了新生儿先天性肾上腺皮质增生症实验诊断方法的未来发展方向。

关键词: 新生儿, 先天性肾上腺皮质增生症, 17α-羟孕酮, 方法学

CLC Number:

R722.1

简永建综述，潘迎审校. 新生儿先天性肾上腺皮质增生症筛查诊断实验方法学发展[J]. 中国儿童保健杂志, 2014, 22(10): 1065-1067.

References

[1] 赵毅,顾学范.羟化酶缺陷症的研究进展[J].国外医学·内分泌分册,1999,19(2):167-169.
[2] Newfield RS,New MI.21-hydroxylase defIcIency[J].Ann NY Acad Sci,1997,816:219-229.
[3] Larsson A,Hagenfeldt L,von Dodeln U,et al.Neonatal screening for congenital adrenal hyperplasia using 17-hydroxyprogesterone assay in filter paper blood spots[J].Horm Res,1998,30:235-240.
[4] Therrell BL Jr,Berenbaum SA,Mantre-kapanke V,et al.Results of screening 1.9 million texas newborns for 21-hydroxy lase- deficientcongenItal abrenal hyerplasia[J].Pediatrcs,1998,101:583-590.
[5] 张洁萍,陆召麟,张桂元,等.17-α羟孕酮测定对先天性肾上腺皮质增生症诊断价值的探讨[J].北京医学,1990,12(5):257-259.
[6] 糜祖煌.新生儿脐血17-羟孕酮固相放射免疫测定研究[J].优生与遗传,1991,16(4):16-17.
[7] 肖祥熊.实用放射免疫分析及其临床意义[M].武汉:同济大学出版社,1985:60-65.
[8] 马燮琴.新生儿血斑标17α-羟孕酮浓度的分布 [J].国外医学·内分泌学分册,1990,10(4):215-216.
[9] 龙学念 .滤纸干血斑点中17α-羟孕酮的酶联免疫吸附试验[J].国际检验医学杂志,1989,10(1):42-43.
[10] 顾学范,周建德,叶军.干血滤纸片法测定17-羟孕酮及临床应用[J].中华检验医学杂志,2001,24(6):365-366.
[11] Gonzalez EC,Marrero N,Perez PL,et al.An enzyme immunoassay for determining 17alpha-hydroxyprogesterone in dried blood spots on filter paper using an ultramicroanalytical system[J].Clinica Chimica Acta,2008,394(1-2):63-66.
[12] Gonzalez RR,Maentausta O,Solyom J,et al.Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper[J].Clin Chem,1990,36(9):1667-1672.
[13] 谢莉,潘莉珍,郑敏,等.新生儿先天性肾上腺皮质增生症筛查分析[J].中国新生儿杂志,2013,28(6):375-378.
[14] Technicalreport:congenital adrenal hyperplasia.Seclion on endocrinology and committee ongenetics[J].Pediatrics,2000,106(6):1511-1518.
[15] 魏纪青,周显腾.高效液相色谱法在先天性肾上腺皮质增生症诊断和分型中的应用[J].中华内分泌杂志,1987,3(2):69-72.
[16] Canalis E,Caldarella AM,Reardon GE.Determination of serum17alpha-hydroxyprogesterone by liquid chromatography[J].Clin Chem,1981,27(7):1241-1243.
[17] 周剑,戴新华,李红梅,等 .血清中17-羟孕酮的测定方法及研究进展[J].化学分析计量,2012,21(2):96-98.
[18] Etter ML,Eichhorst J,Lehotay DC.Clinical determination of 17-hydroxyprogesterone in serum by LC-MS/MS:comparison to Coat-A-Count RIA method[J].J Chromatogr B Analyt Technol Biomed Life Sci,2006,840(1):69-74.
[19] 顾学范,韩连书,高晓岚.串联质谱技术在遗传代谢病高危儿童中的初步应用[J].中国儿科杂志,2004,42(6):401-404.
[20] 顾学范,韩连军,叶军.遗传代谢病的防治要同时考虑社会效益和经济效益[J].中国儿科杂志,2005,43(10):793-794.
[21] Speiser PW,White PC.Congenital adrenal hyperplasia[J].N Engl JMed,2003,349:776-788.
[22] 马定远,孙云,陈玉林,等.21-羟化酶缺陷症基因诊断方法的建立及应用[J].中华医学遗传学杂志,2013,30(1):49-53.
[23] White Pc.Neonatal screening for congenital abrenal hyperplasia[J].Nat Rev Endocrinol,2009,5:490-498.
[24] Balsamo A,Baldazzi L,Menabo S,et al.Impact of molecular genetics on congenital abrenal hyperplasia management[J].Sex Dev,2010,4:233-248.
[25] Nimkarn S,NEW MI.Prenatal diagnosis and treatment of congenital abrenal hyperplasia due to 21-hyperplasia deficiency[J].Mol Cell Endocrinol,2009,300:192-196.

新生儿先天性肾上腺皮质增生症筛查诊断实验方法学发展

PDF

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

[1]	CUI Pengyuan, LI Guiping. Causal relationship between neonatalhy perbilirubinemia and tic disorder by Mendelian randomization [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1116-1121.
[2]	. [J]. Chinese Journal of Child Health Care, 2024, 32(9): 929-933.
[3]	WEI Ping, WEI Jishan, HUANG Xuhua, ZHANG Yuxing, LIU Xianghong, HE Zhongbiao, MO Jingyuan, HUANG Zengshuai, YU Qun. Application of cardiac auscultation, pulse oximetry combine with oxygen inhalation in screening neonatal congenital heart disease in Guangxi Province [J]. Chinese Journal of Child Health Care, 2024, 32(9): 1034-1039.
[4]	HUANG Wanyi, ZHANG Youxiang, OU Qiaoqun, LIU Yuanchun, GUO Jiayu. Effects of gestational diabetes mellitus on brain development and miRNAs expression profile in neonatal mice [J]. Chinese Journal of Child Health Care, 2024, 32(2): 154-158.
[5]	LU Anfeng, HUANG Peilu, BI Lei, HUANG Guosheng, HUANG Haiyan. Physical and neuropsychological development of the offspring born to mother with gestational diabetes mellitus at 2 years old [J]. Chinese Journal of Child Health Care, 2024, 32(2): 208-211.
[6]	WEI Jufang, CHEN Jijian. Trends and influencing factors of low birth weight of newborns in Xixiangtang District, Nanning City from 2015 to 2021 [J]. Chinese Journal of Child Health Care, 2023, 31(7): 785-789.
[7]	. [J]. Chinese Journal of Child Health Care, 2023, 31(2): 225-228.
[8]	CHEN Yu-xia, LIU Hua-yan, FAN Qian-qian. Changes of neuron specific enolase, transcutaneous hour bilirubin, total bilirubin/albumin levels in full-term infants with hyperbilirubinemia and their correlation with long-term neurodevelopment [J]. Chinese Journal of Child Health Care, 2023, 31(1): 86-90.
[9]	ZHANG Du-fei, ZHANG Xiang-yun. Epidemiological survey on neonatal congenital heart disease in Hainan Province in 2020 [J]. Chinese Journal of Child Health Care, 2023, 31(1): 91-95.
[10]	WANG Hui-ping, WANG Li, GAO Qiong, BAI Bo-liang, MA Ying-jun. Physical and neurological development of necrotizing enterocolitis in very low birth weight infants [J]. Chinese Journal of Child Health Care, 2023, 31(1): 96-100.
[11]	LIANG Li-yu, ZHU Hui. Prognosis of neonates with mild hyperthyrotropinemia [J]. Chinese Journal of Child Health Care, 2022, 30(12): 1409-1413.
[12]	LIANG Sui-xin, TI Yun-xing, HUANG Jun-rong, LI Xiu-hong, ZHOU Wen-jia. Protective effect and mechanism of delayed mild hypothermia on white matter injury inoxygen-glucose deprivation and restoration newborn rats [J]. Chinese Journal of Child Health Care, 2022, 30(10): 1083-1087.
[13]	LIU Jian-hong, HUANG Fang. Association of serum NFP and Nrf2 levels with early brain injury in neonatal asphyxia [J]. Chinese Journal of Child Health Care, 2022, 30(7): 787-791.
[14]	DONG Li-ping, ZHANG Zhen, CUI Yan-guo, LI Qing-bo. Application of screening indices for methylmalonic acidemia in Zibo city [J]. Chinese Journal of Child Health Care, 2022, 30(7): 792-795.
[15]	ZHOU Li-xia, CAI Dong, CHEN You-ping. Effect of melatonin regulating Akt/mTOR signal pathway on intestinal barrier function in neonatal rats with necrotizing enterocolitis [J]. Chinese Journal of Child Health Care, 2022, 30(6): 622-626.