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婴儿先天性肾上腺皮质增生症的影像学改变(附3例报告) 被引量:1

Imageology change of infant inborn adrenal cortical hyperplasia (3 cases report)
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摘要 目的提高对婴儿先天性肾上腺皮质增生症的认识。方法3例确诊为先天性肾上腺皮质增生症的婴儿,均行影像学检查,结合文献讨论发病机制、临床表现、影像学改变。结果3例患儿均见肾上腺带样增粗增大,密度均匀,1例似见结节样改变,CT增强可见明显强化。MR信号与肝、脾信号区别明显而易于辨别。结论先天性肾上腺皮质增生症影像学上可见到肾上腺明显增大,结合临床病史、实验室检查可以确定诊断,为临床诊治该病提供更多信息。
出处 《中国现代医学杂志》 CAS CSCD 北大核心 2005年第2期298-299,301,共3页 China Journal of Modern Medicine
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  • 1吴静怡 沈椎堂 等.健康与窒息新生儿血游离钙变化的观察[J].中华儿科杂志,1988,26(1):21-21.
  • 2[1]Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr, 1987, 11: 1~13.
  • 3[2]Owerbah D, Crawford YM, Draznin MB. Direct analysis of CYP 21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. Mol Endo, 1990, 4: 125~30.
  • 4[3]White PC, New MI, Dupont B. Structure of human steroid 21-hydroxylase genes. Proc Natl Acad Sci USA, 1986, 83:5111~ 5.
  • 5[4]Hsien-hsiung Lee, Hsiang-tai Chao, Heung-tat Ng, et al. Direct molecular diagnoses of CYP 21 mutations in congenital adrenal hyperplasia. J Med Genet, 1996, 33: 371~ 5.
  • 6[5]Azziz R, Dewailly D, Owerbach D. Clinical review 56: Nonclassic adrenal hyperplasia: current concepts. J Clin Endocrn & Met abo, 1994, 78: 810~~ 5.
  • 7[6]Shiow-her Chiou, Meng-chun Hu, Bon-chu chung. A missense mutation at Ile172 → Asn or Arg356 → Trp causes steroid21-hydroxylase deficiency. J Biol Chem, 1990, 265: 3549~52.
  • 8[7]Donohoue PA, Parker K, Migeon CJ. Congenital adrenal hyper plasia. In:Scriver CR, et al. The metabolic & molecular bases of inherited disease. 7th ed, New York: McGraw-Hill, Inc, 1995.2929~66.
  • 9[8]Haliassos A, Chomel JC, Tesson L, et al. Modification of enzy matically amplified DNA for the detection of point mutations. Nucleic Acids Res, 1989, 17: 3606~ 12.
  • 10[9]Binder G, Wollmann H, Schwarze CP, et al. X-linked congenitalardenal hypoplasia: new mutations and long-term follow-up in three patients. Clin Endocrinal(Oxf), 2000, 53: 249~ 55.

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