期刊文献+

遗传性淀粉样变性家系1例报告并文献复习

Hereditary amyloidosis:a case report and literature review
原文传递
导出
摘要 随着对淀粉样变性的认识不断深入,免疫球蛋白轻链型(AL型)及血清淀粉样蛋白A型(AA型)淀粉样变性的诊断有了一定的提高,而对于遗传性淀粉样变性的诊疗目前仍存在一定困难和误区。本文报道了一个遗传性淀粉样变性家系,并主要针对遗传性淀粉样变性中家族性淀粉样神经病变、溶菌酶性淀粉样变性、载脂蛋白AI淀粉样变性、载脂蛋白AⅡ淀粉样变性、纤维蛋白原A—α链淀粉样变性的临床表现及诊疗进行讨论。
出处 《中国实用内科杂志》 CAS CSCD 北大核心 2014年第3期305-307,共3页 Chinese Journal of Practical Internal Medicine
基金 国家临床重点专科建设项目
关键词 遗传性淀粉样变性 转甲状腺素蛋白 载脂蛋白A I 载脂蛋白AⅡ 纤维蛋白原A-α链 hereditary amyloidosis transthyretin apolipoprotein A I apolipoprotein AII fibrinogen A α-chain
  • 相关文献

参考文献1

二级参考文献10

  • 1Benson MD,Liepnieks J,Uemichi T,et al.Hereditary renal amyloidosis associated with a mutant fibrinogen a-chain.Nat Genet.1993,3:252-255.
  • 2Lachmann HJ,Booth DR,Booth SE,et al.Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis.N Engl J Med,2002,346:1786-1791.
  • 3Hawkins PN.Hereditary systemic amyloidosis with renal involvement.J Nephrol,2003,16:443-448.
  • 4Hamidi ASL L,Liepnieks JJ,Uemichi T,et al.Renal amyloidosis with a frame shift mutation in fibrinogen a a-chain gene producinga novel amyloid protein.Blood,1997.90:4799-4805.
  • 5Uemichi T,Liepnieks JJ,Yamada T,et al.A frame shift mutation in the fibrinogen Aa-chain gene in a kindred with renal amyloidosis.Blood.1996,87:4197-4203.
  • 6Hamidi Asl L,Fournier V,Billerey C,et al.Fibrinogen A a-chain mutation (Arg54Leu) associated with hereditary renal amyloidosis in a French family.Amyloid,1998,5:279-284.
  • 7Uemichi T,Liepnieks JJ,Gertz MA,et al.Fibrinogen A a chain Leu554:an African-American kindred with late onset renal amyloidosis.Amyloid,1998,5:188-192.
  • 8Uemichi T,Liepnieks JJ,Yamada T,et al.A frame shift mutation in the fibrinogen A a-chain gene in a kindred with renal amyloidosis.Blood,1996,87:4197-4203.
  • 9Kang HG,Bybee A,Il Soo Ha,et al.Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen Aa chain gene.Kidney Int,2005,68:1994-1998.
  • 10Tennent GA,Brennan SO,Stangou AJ,et al.Human plasma fibrinogen is synthesized in the liver.Blood,2006 Nov 2;[Epub ahead of print].

共引文献6

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