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Atypical hemolytic uremic syndrome in the Tunisian population

  • Nephrology – Case Report
  • Published:
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Abstract

Background

Hemolytic uremic syndrome consists of a triad of acquired hemolytic anemia, thrombocytopenia and renal failure.

Aim

Our objectives were to determine epidemiology, clinical and laboratory characteristics of patients with atypical hemolytic uremic syndrome (aHUS) to determine the relationship between the complement protein deficit and aHUS in the Tunisian population.

Methods

We studied retrospectively four cases of atypical HUS in adults admitted in the Nephrology Department of Fattouma Bourguiba Universitary Hospital in Monastir between 2000 and 2008.

Results

Three patients had renal failure that required dialysis. One of them received kidney transplantation with no further recurrence of aHUS. Three patients had normal C3, C4, CFH, and FB levels, and in all patients anti-FH autoantibodies were absent. The kidney biopsy of one patient showed in addition to lupus glomerulonephritis histological findings consistent with TMA. A decrease in C3, C4 and CFH levels in this patient was found both before and after the cure.

Conclusion

Nephrologists should be aware of autoimmune conditions and genetic abnormalities of the complement regulatory genes as possible pathogenic mechanisms in atypical HUS patients.

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References

  1. Besbas N, Karpman D, Landau D et al (2006) A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders. Kidney Int 70:423–431

    PubMed  CAS  Google Scholar 

  2. Noris M, Remuzzi G (2005) Hemolytic Uremic Syndrome. J Am Soc Nephrol 16:1035–1050

    Article  PubMed  CAS  Google Scholar 

  3. Joel L, Moake MD (2002) Thrombotic microangiopathies. N Eng J Med 347(8):589–600

    Article  Google Scholar 

  4. Sellier-Leclerc AL, Frémeaux-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 18:2392–2400

    Article  PubMed  CAS  Google Scholar 

  5. Ghazi O and Tadmouri GO (2005) Hemolytic–uremic syndrome. Centre for Arab Genomic Studies CTGA database 1–3

  6. Warwicker P, Donne RL, Goodship THJ et al (1999) Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency. Nephrol Dial Transplant 14(5):1229–1233

    Article  PubMed  CAS  Google Scholar 

  7. Noris M, Brioschi S, Caprioli J et al (2003) International registry of recurrent and familial HUS/TTP. Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362(9395):1542–1547

    Article  PubMed  CAS  Google Scholar 

  8. Lutz HU, Jelezarova E (2006) Complement amplification revisited. Mol Immunol 43:2–12

    Article  PubMed  CAS  Google Scholar 

  9. Frémeaux-Bacchi V, Miller EC, Liszewski MK et al (2008) Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome. Blood 112:4948–4952

    Article  PubMed  Google Scholar 

  10. Goicoechea de Jorge E, Harris CL, Esparza-Gordillo J et al (2007) Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome. PNAS 104:240–245

    Article  PubMed  CAS  Google Scholar 

  11. Pérez-Caballero D, González-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(2):478–484

    Article  PubMed  Google Scholar 

  12. Noris M, Remuzzi G (2009) Atypical hemolytic-uremic syndrome. N Engl J Med 361(17):1676–1687

    Article  PubMed  CAS  Google Scholar 

  13. Dragon-Durey MA, Loirat C, Cloarec S et al (2005) Anti-FH autoantibodies associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol 16(2):555–563

    Article  PubMed  CAS  Google Scholar 

  14. Pickering MC, Cook HT (2008) Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals. Clin Exp Immunol 151:210–230

    Article  PubMed  CAS  Google Scholar 

  15. Esparza-Gordillo J, Goicoechea de Jorge E, Abarrategui Garrido C et al (2006) Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree. Mol Immunol 43:1769–1775

    Article  PubMed  CAS  Google Scholar 

  16. Noris M, Brioschi S, Caprioli J et al (2003) Familial haemolytic uraemic syndrome and an MCP mutation. Lancet 362:1542–1547

    Article  PubMed  CAS  Google Scholar 

  17. Richards A, Kemp EJ, Liszewski MK et al (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci USA 100:12966–12971

    Article  PubMed  CAS  Google Scholar 

  18. 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 41:84

    Article  Google Scholar 

  19. 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 16:2150–2155

    Article  PubMed  CAS  Google Scholar 

  20. Richards A, Kathryn Liszewski M, Kavanagh D et al (2007) Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome. Mol Immunol 44:111–122

    Article  PubMed  CAS  Google Scholar 

  21. Kavanagh D, Richards A, Fremeaux-Bacchi V et al (2007) Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome. Clin J Am Soc Nephrol 2:591–596

    Article  PubMed  CAS  Google Scholar 

  22. Rougier N, Kazatchkine MD, Rougier JP et al (1998) Human complement factor H deficiency associated with hemolytic uremic syndrome. J Am Soc Nephrol 9(12):2318–2326

    PubMed  CAS  Google Scholar 

  23. 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 108:1267–1279

    Article  PubMed  CAS  Google Scholar 

  24. Donne RL, Abbs I, Barany P et al (2002) Recurrence of hemolytic uremic syndrome after live related renal transplantation associated with subsequent de novo disease in the donor. Am J Kidney Dis 40:E22

    Article  PubMed  Google Scholar 

  25. Amadei N, Baracho GV, Nudelman V et al (2001) Inherited complete factor I deficiency associated with systemic lupus erythematosus, higher susceptibility to infection and low levels of factor H. Scand J Immunol 53(6):615–621

    Article  PubMed  CAS  Google Scholar 

  26. Carreras L, Romero R, Requesens C et al (1981) Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3, B7 haplotype. JAMA 245:602–604

    Article  PubMed  CAS  Google Scholar 

  27. Sánchez-Corral P, Pérez-Caballero D, Huarte O et al (2002) Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome. Am J Hum Genet 71(6):1285–1295

    Article  PubMed  Google Scholar 

  28. Bresin E, Daina E, Noris M et al (2006) Outcome of renal transplantation in patients with non–shiga toxin–associated hemolytic uremic syndrome: prognostic significance of genetic background. Clin J Am Soc Nephrol 1:88–99

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Biochemistry and Molecular Biology Laboratory, Faculty of Pharmacy, AV. Avicenne, 5019, Monastir, Tunisia

    Nadia Leban, Ramzy Lakhdhar, Jemni Chibani & Amel Haj Khelil

  2. Department of Nephrology, Fattouma Bourguiba Universitary Hospital, Monastir, Tunisia

    Sabra Aloui, Dalel Touati, Habib Skhiri & Mezri Elmay

  3. Institute of Human Genetics, CNRS and University of Montpellier-II, Hérault, France

    Gerard Lefranc

  4. Department of Nephrology, Sahloul Universitary Hospital, Sousse, Tunisia

    Abdellatif Achour

  5. Immunology Unit, La Paz Universitary Hospital, Madrid, Spain

    Margarita Lopez-Trascasa

  6. Research Unit, Hospital Universitario La Paz, Madrid, Spain

    Pilar Sanchez-Corral

Authors
  1. Nadia Leban
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  2. Sabra Aloui
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  3. Dalel Touati
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  4. Ramzy Lakhdhar
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  5. Habib Skhiri
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  6. Gerard Lefranc
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  7. Abdellatif Achour
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  8. Mezri Elmay
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  9. Margarita Lopez-Trascasa
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  10. Pilar Sanchez-Corral
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  11. Jemni Chibani
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  12. Amel Haj Khelil
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Corresponding author

Correspondence to Nadia Leban.

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Leban, N., Aloui, S., Touati, D. et al. Atypical hemolytic uremic syndrome in the Tunisian population. Int Urol Nephrol 43, 559–564 (2011). https://doi.org/10.1007/s11255-010-9754-3

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  • DOI: https://doi.org/10.1007/s11255-010-9754-3

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