期刊文献+

肝豆状核变性患儿21例临床分析 被引量:1

下载PDF
导出
摘要 肝豆状核变性是一种常染色体隐性遗传的铜代谢缺陷病。临床上以不同程度的肝细胞损害、脑退行性病变、角膜边缘铜盐沉着(KF)环以及血管内溶血、肾脏损伤为主要临床特征。儿童期的初发症状以肝病为主,临床上以各系统作为首发症状的病例均不少见,误诊率很高。现将我院近年来的临床病例分析总结如下。
出处 《临床荟萃》 CAS 2015年第3期328-330,共3页 Clinical Focus
  • 相关文献

参考文献15

  • 1Dhawan A, Taylor RM, Cheeseman P, et al. Wilson's disease in children: 37-year experience and revised King's score forliver transplantation[J]. Liver Transpl, 2005,11 (4) : 441-448.
  • 2罗政,陈友鹏,梁旭竞,张立伐.肝豆状核变性患者肝脏病变特点的临床分析[J].临床荟萃,2006,21(12):865-866. 被引量:2
  • 3Deiss A, Lee GR, Cartwright GE. Hemolytic anemia in Wilson:s disease[J]. Ann Int Med,1970,73(3) :413-418.
  • 4Bull PC, Thomas GR, Rommens JM, et al. The Wilson disease gene is a putative copper transporting P-type ATP ase similar to the Menker gene2J:. Nature Genet, 1993, 5(4): 327-335.
  • 5Petrukhin K, Fischer SG, Pirastu M, et al. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene[J:. Nat Genet,1993,5(4) :338-343.
  • 6Yamaguchi Y, Heiny ME, Gitlin JD. Isolation and characterization of a human liver cDNA as a candidate gene for Wilson disease[J:. Biochem Biophys Res Commun, 1993,197 (1) :271-277.
  • 7Thomas GR, Forbes JR, ROberts EA, et al. The Wilson disease gene: spectrum of mutations and their consequences [J]. Nat Genet,1995,9(2): 210-217.
  • 8Sokol RJ, Francis PO, Gold SH, et al. Orthotopie liver transplantation for fulminant Wilson's disease :Jj. J pediatr, 1985,107(4) :549-552.
  • 9Kraut JR, Yogev R. Fatal fulminant hepatitis with hemolysis in Wilson's disease. Criteria for diagnosis [J:. Clin Pediatr (Phila) ,1984,23(11) :637-640.
  • 10Walshe JM. Treatment of Wilson :s disease with trientine (triethylene tetramine) dihydrochloride [J]. Lancet, 1982,1 (8273) :643-647.

二级参考文献10

  • 1冯琳,陈源,张会丰.小儿肝豆状核变性发病的基因基础和治疗进展[J].中国急救医学,2005,25(1):58-59. 被引量:2
  • 2Nazer H, Ede ILl, Mowat AP, et al. Wilson's disease: Clinical presentation and use of prognostic index. Gut, 1986,27(2): 1377.
  • 3Young AB, Shoulson I, Penney JB, et al. Huntington's disease in Venezuela: Neurologic features and functional declinc. Neurology,1986,36(3):244.
  • 4Brewer G J, Terry C A, Aisen A M. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy.Arch Neurol, 1987,44(5):490.
  • 5Brewer GJ. Penicillamine should not be used as initial therapy in Wilson's disease. Mov Disord,1999,14(4):551.
  • 6梁秀龄.神经系统遗传性疾病[M].北京:人民军医出版社,2001.3-8.
  • 7叶任高 陆再英.内科学[M].第6版[M].北京:人民卫生出版社,2003.755-758.
  • 8Sternlied I.Perspectives on Willson's Diseases[J].Hepatology,1990,12(5):1234-1239.
  • 9黄丽,石铸,李洵桦.肝豆状核变性的治疗现状和展望[J].中国神经精神疾病杂志,2004,30(1):80-80. 被引量:10
  • 10方军,黄昭穗,黄胜立,刘开渊.肝豆状核变性表现为肝硬化1例[J].实用医学杂志,2004,20(4):407-407. 被引量:2

共引文献19

同被引文献18

引证文献1

二级引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部