Syndrome hémolytique et urémique atypique : pour qui l’éculizumab ?

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• 作者：A. Servais (1)
  A. Hummel (1)
  C. Legendre (1)
  
• 关键词：Syndrome hémolytique et urémique ; SHU ; éculizumab ; Insuffisance rénale aigu? ; Anémie hémolytique ; Thrombopénie ; Hemolytic and uremic syndrome ; HUS ; Eculizumab ; Acute renal failure ; Hemolytic anemia ; Thrombocytopenia
• 刊名：R篓娄animation
• 出版年：2014
• 出版时间：November 2014
• 年：2014
• 卷：23
• 期：6
• 页码：645-652
• 全文大小：549 KB
• 参考文献：1. Loirat C, Saland J, Bitzan M (2012) Management of hemolytic uremic syndrome. Press Med 41(3 Pt 2):e115-5 CrossRef
  2. Kavanagh D, Goodship TH, Richards A (2013) Atypical hemolytic uremic syndrome. Seminars in nephrology 33:508-0 CrossRef
  3. Besbas N, Karpman D, Landau D, et al (2006) A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kid Int 70:423-1
  4. Fremeaux-Bacchi V, Fakhouri F, Garnier A, et al (2013) Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. Clin J Am Soc Nephrol 8:554-2 CrossRef
  5. Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, et al (2007) Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome. J Am Soc Nephrol 18:2392-00 CrossRef
  6. Warwicker P, Goodship TH, Donne RL, et al (1998) Genetic studies into inherited and sporadic hemolytic uremic syndrome. Kid Inte 53:836-4 CrossRef
  7. Caprioli J, Bettinaglio P, Zipfel PF, et al (2001) 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 12:297-07
  8. Perez-Caballero D, Gonzalez-Rubio C, Gallardo ME, et al (2001) Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet 68:478-4 CrossRef
  9. Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al (2004) Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases. J Am Soc Nephrol 15:787-5 CrossRef
  10. Maga TK, Nishimura CJ, Weaver AE, et al (2010) Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mut 31:e1445-0 CrossRef
  11. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, et al (2004) Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet 41:e84 CrossRef
  12. Kavanagh D, Kemp EJ, Mayland E, et al (2005) Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol 16:2150- CrossRef
  13. Kavanagh D, Richards A, Noris M, et al (2008) Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome. Mol Immunol 45:95-05 CrossRef
  14. Caprioli J, Noris M, Brioschi S, et al (2006) Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood 108:1267-9 CrossRef
  15. Westra D, Volokhina E, van der Heijden E, et al (2010) Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS). Nephrol Dial Transplant 25:2195-02 CrossRef
  16. Nilsson SC, Kalchishkova N, Trouw LA, et al (2010) Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I. Eur J Immunol 40:172-5 CrossRef
  17. Richards A, Kemp EJ, Liszewski MK, et al (2003) Mutations in human complement regulator, membrane cofactor protein (CD46),
• 作者单位：A. Servais (1)
  A. Hummel (1)
  C. Legendre (1)
  
  1. Service de néphrologie et transplantation, h?pital Necker-enfants malades, APHP, Paris Descartes université, 149 rue de Sèvres, F-75015, Paris, France
  
• ISSN：1951-6959

文摘

Hemolytic and uremic syndrome (HUS) is defined by mechanical intravascular hemolytic anemia, thrombocytopenia and acute renal failure. Most HUS, which are not due to shigatoxin-producing Escherichia Coli, present as primary disease called atypical HUS which is due to abnormal control of complement activation. Before the era of specific treatment, prognosis was severe since 2 to 10% of patients died during the first year and one third progressed to end-stage renal disease. Understanding the role of complement lead to a new therapeutic approach based on eculizumab, a recombinant, humanized, monoclonal anti-C5 immunoglobulin G which blocks C5 cleavage. Eculizumab has proven its efficiency with 85% of success in both plasma-resistant and dependent patients, allowing a better control of the disease than plasma therapy when considering renal function. Eculizumab is recommended to date as first-line treatment in children and as soon as the main secondary HUS causes have been ruled out in adults. Eculizumab should be systematically considered in case of resistance to 3- daily plasma exchanges, defined by persistent thrombocytopenia but also ongoing hemolysis or lack of improvement in renal function.