American Journal of Kidney Diseases
Volume 51, Issue 4 , Pages 671-677 , April 2008

Complement Factor H Deficiency and Posttransplantation Glomerulonephritis With Isolated C3 Deposits

  • Olivia Boyer, MD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Laure-Hélène Noël, MD, PhD

      Affiliations

    • INSERM U845, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Eve Balzamo, MD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Geneviève Guest, MD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Nathalie Biebuyck, MD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Marina Charbit, MD, PhD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Rémi Salomon, MD, PhD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • ,
  • Véronique Frémeaux-Bacchi, MD, PhD

      Affiliations

    • Assitance Publique Hopitaux de Paris, Laboratory of Immunology, Hôpital Européen Georges Pompidou, Université Paris Descartes, Paris, France.
    • ,
  • Patrick Niaudet, MD

      Affiliations

    • Pediatric Nephrology, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France
    • Corresponding Author InformationAddress correspondence to Patrick Niaudet, MD, Service de Néphrologie Pédiatrique, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.

Received 12 July 2007 ,Accepted 19 November 2007.

References 

  1. Dragon-Durey MA, Fremeaux-Bacchi V. Atypical haemolytic uraemic syndrome and mutations in complement regulator genes. Springer Semin Immunopathol. 2005;27:359–374
  2. Dragon-Durey MA, Fremeaux-Bacchi V, Loirat C, et al. 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. 2004;15:787–795
  3. Caprioli J, Noris M, Brioschi S, et al. Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. Blood. 2006;108:1267–1279
  4. Jokiranta TS, Jaakola VP, Lehtinen MJ, et al. Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome. EMBO J. 2006;25:1784–1794
  5. Saunders RE, Abarrategui-Garrido C, Fremeaux-Bacchi V, et al. The interactive factor H-atypical hemolytic uremic syndrome mutation database and Website: Update and integration of membrane cofactor protein and factor I mutations with structural models. Hum Mutat. 2007;28:222–234
  6. Bresin E, Daina E, Noris M, et al. Outcome of renal transplantation in patients with non-Shiga toxin-associated hemolytic uremic syndrome: Prognostic significance of genetic background. Clin J Am Soc Nephrol. 2006;1:88–99
  7. Goodship TH. Factor H genotype-phenotype correlations: Lessons from aHUS, MPGN II, and AMD. Kidney Int. 2006;70:12–13
  8. Levy M, Halbwachs-Mecarelli L, Gubler MC, et al. H deficiency in two brothers with atypical dense intramembranous deposit disease. Kidney Int. 1986;30:949–956
  9. Vogt BA, Wyatt RJ, Burke BA, et al. Inherited factor H deficiency and collagen type III glomerulopathy. Pediatr Nephrol. 1995;9:11–15
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  11. Servais A, Fremeaux-Bacchi V, Lequintrec M, et al. Primary glomerulonephritis with isolated C3 deposits: A new entity which shares common genetic risk factors with hemolytic uremic syndrome. J Med Genet. 2007;44:193–199
  12. Fremeaux-Bacchi V, Dragon-Durey MA, Blouin J, et al. Complement factor I: A susceptibility gene for atypical haemolytic uraemic syndrome. J Med Genet. 2004;41:e84
  13. Fremeaux-Bacchi V, Moulton EA, Kavanagh D, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–2025
  14. Fakhouri F, Darre S, Droz D, et al. Mesangial IgG glomerulonephritis: A distinct type of primary glomerulonephritis. J Am Soc Nephrol. 2002;13:379–387
  15. Turner DR, Cameron JS, Bewick M, et al. Transplantation in mesangiocapillary glomerulonephritis with intramembranous dense “deposits”: Recurrence of disease. Kidney Int. 1976;9:439–448
  16. Droz D, Nabarra B, Noel LH, et al. Recurrence of dense deposits in transplanted kidneys: I. Sequential survey of the lesions. Kidney Int. 1979;15:386–395
  17. Beaufils H, Gubler MC, Karam J, et al. Dense deposit disease: Long term follow-up of three cases of recurrence after transplantation. Clin Nephrol. 1977;7:31–37
  18. Andresdottir MB, Assmann KJ, Hoitsma AJ, et al. Renal transplantation in patients with dense deposit disease: Morphological characteristics of recurrent disease and clinical outcome. Nephrol Dial Transplant. 1999;14:1723–1731
  19. Licht C, Heinen S, Jozsi M, et al. Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II). Kidney Int. 2006;70:42–50
  20. Hamburger J, Hinglais N, Noel LH. [Classification of glomerulonephritides]. Ann Med Interne (Paris). 1976;127:133–137
  21. Vaziri-Sani F, Holmberg L, Sjoholm AG, et al. Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome. Kidney Int. 2006;69:981–988
  22. Ying 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;65:1538–1546
  23. Ault BH. Factor H and the pathogenesis of renal diseases. Pediatr Nephrol. 2000;14:1045–1053
  24. Noris M, Brioschi S, Caprioli J, et al. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet. 2003;362:1542–1547
  25. Hogasen K, Jansen JH, Mollnes TE, et al. Hereditary porcine membranoproliferative glomerulonephritis type II is caused by factor H deficiency. J Clin Invest. 1995;95:1054–1061
  26. Pickering MC, Cook HT, Warren J, et al. Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor H. Nat Genet. 2002;31:424–428
  27. Pickering MC, Warren J, Rose KL, et al. Prevention of C5 activation ameliorates spontaneous and experimental glomerulonephritis in factor H-deficient mice. Proc Natl Acad Sci U S A. 2006;103:9649–9654
  28. Kavanagh D, Kemp EJ, Mayland E, et al. Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:2150–2155
  29. Esparza-Gordillo J, Jorge EG, Garrido CA, et al. Insights into hemolytic uremic syndrome: Segregation of three independent predisposition factors in a large, multiple affected pedigree. Mol Immunol. 2006;43:1769–1775
  30. Genel F, Sjoholm AG, Skattum L, et al. Complement factor I deficiency associated with recurrent infections, vasculitis and immune complex glomerulonephritis. Scand J Infect Dis. 2005;37:615–618
  31. Esparza-Gordillo J, Goicoechea de Jorge E, Buil A, et al. Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32. Hum Mol Genet. 2005;14:703–712

PII: S0272-6386(08)00040-1

doi: 10.1053/j.ajkd.2007.11.032

American Journal of Kidney Diseases
Volume 51, Issue 4 , Pages 671-677 , April 2008

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