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先天性肾上腺皮质增生症的诊治现状 被引量：13

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摘要 先天性肾上腺皮质增生症（congenital adrenal hyperplasia,CAH）是一组因肾上腺皮质激素合成途径中酶缺陷引起的疾病,属于常染色体隐性遗传病,据不同国家及地区的新生儿CAH筛查报道,该病的发病率在1/10000～1/20000,并有明显的种族和地区的差别[1,2]。随着成功分离21-羟化酶基因,人们已经逐步了解不同类型CAH基因突变的位置及肾上腺皮质激素合成的全过程,从而对先天性肾上腺皮质增生症的诊断及治疗有了进一步的认识。
作者 李媛媛 王建华 王金锐
机构地区 内蒙古医学院研究生院 内蒙古鄂尔多斯市中心医院超声科 北京大学医学部第三附属医院
出处 《中国现代医药杂志》 2010年第12期130-132,共3页 Modern Medicine Journal of China
关键词 先天性肾上腺皮质增生症 常染色体隐性遗传病 21-羟化酶基因 肾上腺皮质激素 诊治 合成途径 激素合成 基因突变
分类号 R725.8 [医药卫生—儿科]
  • 相关文献

参考文献22

  • 1Gleen HK,Wiley V,Wilcken B,et al.Tow-yearpilot 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(10):554-559.
  • 2Grunieiro-Papendieck L,Chiesa A.Mendez V,et al.Neonatal scree-ning for congenital adrenal hyperplasia:experience and results in Argentina[J].J Pediatr Endocrinol Metab,2008,21(1):71-78.
  • 3罗湘航,袁凌青.先天性肾上腺皮质增生症.见:廖二元.内分泌学[M].北京:人民卫生出版社,2007:841.
  • 4Huang N,Agrawal V,Giacomini KM,et al.Genetics of P450 oxidore ductase:sequence variation in 842 individuals of four ethnicities and activities of 15 missense mutation[J].Proc Natl Acad Sci USA,2008,105(5):1733-1738.
  • 5MattesonK J,Picado-Leonard J,Chung BC,et al.Assign-ment of the gene for adrenal P450c17(steroid 17α-hydroxylase/17,201yase)to human chromosome10[J].JClin Endocrinol Metab,1986,63:789-791.
  • 6Lane DE.Polycysticovary syndrome and its differential diagnosis[J].Obs Gynecol Survey,2006,61(2):125-135.
  • 7Al-Alwan I,Navarro O,Daneman D,et al.Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyper plasia[J].J Pediatr,1999,135(1):71-75.
  • 8白人驹.医学影像诊断学[M].2版.北京:人民卫生出版社,2006:615-621
  • 9Cardoso CB,Fonseca AA,De Oliveira MF,et al.Congenital adrenal hyperplasia newborn screening:Riode Janeiro experience[J].Arq Bras Endocrinol Metab,2005,49(1):112-119.
  • 10Cavarzere P,Camilot M,Teofoli F,et al.Neonatal screening for Congenital adrenal hyperplasia in North-Eastern Italy:A report threeyears in to the program[J].HormRes,2005,63(4):180-186.

二级参考文献15

  • 1van der Kamp HJ,Wit JM.Neonatal screening for congenital adrenal hyperplasia[J].Eur J Endocrinol,2004,151(suppl 3):S71-S75.
  • 2Homma K,Hasegawa T,Takeshita E,et al.Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates[J].J Clin Endrocrinol Metab,2004,89(12):6087-6091.
  • 3Lane DE.Polycystic ovary syndrome and its differential diagnosis[J].Obs Gynecol Survey,2006,61(2):125-135.
  • 4van der Kamp HJ,Oudshoorn CG.Cutoff levels of 17-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight[J].J Clin Endocrinol Metab,2005,90(7):3904-3907.
  • 5Speiser PW.Diagnosis and management of congenital adrenal hyperplasia[J].Expert Rev Endocrin Metab,2006,1(1):103-110.
  • 6Pang S,Pollack MS,Marshall RN,et al.Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].N Engl J Med,1990,322:111-115.
  • 7Joint LWPES/ESPE CAH Working Group.Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins pediatric endocrine society and the european society for paediatric endocrinology[J].J Clin Endocrinol Metab,20002,87(9):4048-4053.
  • 8New MI,Carison A,Obeid J,et al.Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies[J].J Clin Endrocrinol Metab,2001,86(12):5651-5657.
  • 9Lajic S,Wedell A,Bui TH,et al.Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia[J].J Clin Endocrinol Metab,1998,83 (11):3872-3880.
  • 10Khadilkar VV,Khadilkar AV,Maskati GB.Impact of availability of oral hydrocortisone on growth of children with CAH[J].India J Pediatr,2005,72(4):301-303.

共引文献53

同被引文献118

引证文献13

二级引证文献44

中国现代医药杂志
2010年 第12期

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