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17-羟孕酮在新生儿CAH筛查中的诊断意义 被引量：8

The Diagnostic Significance of 17-Hydroxyprogesterone in the Neonatal Screening for CAH
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摘要 先天性肾上腺皮质增生症（congenit Madrenal hyperplasia，CAH）是一组因肾上腺皮质激素合成途径中酶缺陷引起的先天性常染色体隐性遗传病。据统计，全世界该病发生率约1／10000～1／20000，各种族地区间略有差异，目前我院临床医学分子中心的新生儿筛查室统计的发病率约为1／18000。
作者 张馨尹 陈贻骥
机构地区 重庆医科大学附属儿童医院
出处 《儿科药学杂志》 CAS 2013年第10期56-59,共4页 Journal of Pediatric Pharmacy
关键词 新生儿筛查 17-羟孕酮 先天性肾上腺皮质增生症 CAH 常染色体隐性遗传病 肾上腺皮质激素 诊断 合成途径
分类号 R722.1 [医药卫生—儿科]
  • 相关文献

参考文献22

  • 1Antal Z, Zhou P. Congenital adrenal hyperplasia: diagnosis, evaluation and management[1J. Pediatr Rev, 2009, 30 ( 7 ) : e49-e57.
  • 2周剑,戴新华,李红梅,弓爱君.血清中17α-羟孕酮的测定方法及其研究进展[J].化学分析计量,2012,21(2):96-98. 被引量：7
  • 3Guercio G, Rivarola MA, Chaler E, et al. Hydrocortisone treatment in girls with congenital adrenal hyperplasia inhibits serum dehydroepiandrosterone sulfate and affects the GH-IGF-I system[lJ. 1 Pediatr Endocrinol Metab, 2009, 22(3) : 255-26l.
  • 4Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J]. Hum Reprod Update, 2004, 10(6): 469485.
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  • 8毛维玉,郭辉,闵娟,林琳华.早产新生儿体重对CAH筛查中17-羟孕酮结果的影响分析[J].国际医药卫生导报,2008,14(7):11-14. 被引量：18
  • 9RyckmanKK, Cook DE, Berberich SL, et al. Replication of clinical associations with 17 -hydroxyprogesterone in preterm newborns[1J . 1 Pediatr Endocrinol Metab, 2012, 25(34): 301-305.
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二级参考文献37

  • 1吴志君,朱云霞,陈道桢.无锡地区新生儿先天性肾上腺皮质增生症的发病情况探讨[J].中国优生与遗传杂志,2006,14(10):72-72. 被引量：10
  • 2郭辉,闵娟,毛维玉,林琳华,吴本清,何林.出生后采血时间对新生儿CAH筛查结果的影响分析[J].国际医药卫生导报,2007,13(10):34-36. 被引量：4
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  • 9Abbassi-Ghanavati M,et al.Obstet Gynecol,2009,114(6):1 326–1 331.
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共引文献28

同被引文献63

  • 1罗小平,祝婕.先天性肾上腺皮质增生症的诊断及治疗[J].实用儿科临床杂志,2006,21(8):510-512. 被引量：42
  • 2胡亚美,江载芳,诸福棠.实用儿科学[M].7版.北京:人民卫生出版社,2002:1150-1212.
  • 3Behrman RE.NeLson textbook of Pediatrics[M].16th ed.Phliladelphia:Saundres Company,2000:1729-1736.
  • 4Speiser PW.Prenatal and neonatal diagnosis and treatment of con-genital adrenal hyperplasia[J].Horm Res,2007,68(Suppl5):222-229.
  • 5Vos AA,Bruinse HW.Congenital adrenal hyperplasia:Do the benefits of prenatal treatment defeat the risks?[J].Obstet Gynecol Surv,2010,65(3):196-205.
  • 6Forest MG.Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].Hum Reprod Update,2004,10:469.
  • 7Azziz R,Hincapie LA,Knochenhauer ES,et al.Screening for 21-hydroxylase-deficientnonclassic adrenalhyperplasia among hyperan-drogenic women:a prospective study[J].Fertil Steri,1999,72(5):915-925.
  • 8Kamisawa T,Ryu JK,Kim MH,et al.Recent advances in the diagnosis and management of autoimmune pancreatitis:similarities and differences in Japan and Korea[J].Gut Liver,2013,7:394-400.
  • 9Gleeson HK,Wiley V,Wilcken B,et al.Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia[J].J Paediatr Child Health,2008,44:554-559.
  • 10Gru(n)ieiro-Papendieck L,Chiesa A,Mendez V,et al.Neonatal screening for congenital adrenal hyperplasia:experience and results in Argentina[J].J Pediatr Endocrinol Metab,2008,21:73-78.

引证文献8

二级引证文献40

儿科药学杂志
2013年 第10期

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