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补体因子H与非典型性溶血性尿毒综合征 被引量：1

Complement H and atypical hemolytic uremic syndrome(Ahus)
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摘要 溶血性尿毒综合征以微血管溶血性贫血、血小板减少和急性肾功能衰竭为临床特征。基因分析研究表明补体因子H与非典型性溶血性尿毒综合征的发病密切相关 ,并且发现突变大多丛集在补体因子H的C 末端 ,被称为“突变焦点”。
作者 张颖 周新 李霞
机构地区 武汉大学中南医院检验科
出处 《国外医学（临床生物化学与检验学分册）》 2004年第4期336-338,共3页 Foreign Medical Sciences(section of Clinical Biochemistry and Laboratory Medicine
关键词 补体因子H 非典型性 溶血性 尿毒综合征 基因突变
分类号 R442.8 [医药卫生—诊断学]
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参考文献15

  • 1Capriole J,Bettinaglio P,Zipfel PF,et al.The molecular basis of familial hemolytic uremic syndrome:mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.J Am Soc Nephrol,2001,12(2):297-307.
  • 2Perkins SJ,Goodship TH.Molecular modelling of the C-terminal domains of factor H of human complement:a correlation between hemolytic uremic syndrome and a predicted heparin binding site.J Mol Biol,2002,316(2):217-224.
  • 3Noris M,Ruggenenti P,Perna A,et al.Hypocomplementemia discloses genetic predisposition to hemolytic uremic syndrome and thrombotic thrombocytopenic purpura:role of factor H abnormalities.Italian Registry of Familial and Recurrent Hemolytic Uremic Syndrome
  • 4Jokiranta TS,Solomon A,Pangburn MK,et al.Nephritogenic lambda light chain dimer:a unique human miniautoantibody against complement factor H.J Immunol,1999,163(8):4590-4596.
  • 5Ohali M,Shalev H,Schlesinger M,et al.Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.Pediatr Nephrol,1998,12(8):619-624
  • 6Zipfel PF,Skerka C.Complement factor H related protein:an expanding family of complement-regulatory proteins? Immunol Today,1994,15(3):121-126.
  • 7Warwicker P,Goodship TH,Donne RL,et al.Genetic studies into inherited and sporadic hemolytic uremic syndrome.Kidney Int,1998,53(4):836-844.
  • 8Ying L,Katz Y,Schlesinger M,et al.Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome.Am J Hum Genet,1999,65(6):1538-1546.
  • 9Perez-Caballero D,Gonzalez-Rubio C,Gallardo ME,et al.Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.Am J Hum Genet,2001,68(2):478-484.
  • 10Pangburn MK.Cutting edge:localization of the host recognition functions of complement factor H at the carboxyl-terminal:implications for hemolytic uremic syndrome.J Immunol,2002,169(9):4702-4706.

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国外医学（临床生物化学与检验学分册）
2004年 第4期

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