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Pediatric Nephrology

, Volume 28, Issue 8, pp 1315–1318 | Cite as

Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B

  • Rodney D. Gilbert
  • Darren J. Fowler
  • Elizabeth Angus
  • Stephen A. Hardy
  • Louise Stanley
  • Timothy H. Goodship
Brief Report

Abstract

Background

Atypical haemolytic uraemic syndrome (aHUS) is caused by dysregulated complement activation. A humanised anti-C5 monoclonal antibody has recently become available for treatment of this condition

Case-Diagnosis/Treatment

We present the first description of an infant with an activating mutation of complement factor B successfully treated with eculizumab. On standard doses she had evidence of ongoing C5 cleavage despite a good clinical response.

Conclusions

Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients.

Keywords

Atypical haemolytic uraemic syndrome Eculizumab Complement factor B Gain-of-function mutation Complement activation 

Notes

Acknowledgements

Drs. MR Haq, A Nagra and MJ Harmer are thanked for their clinical contributions.

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Copyright information

© IPNA 2013

Authors and Affiliations

  • Rodney D. Gilbert
    • 1
  • Darren J. Fowler
    • 2
  • Elizabeth Angus
    • 3
  • Stephen A. Hardy
    • 4
  • Louise Stanley
    • 4
  • Timothy H. Goodship
    • 5
  1. 1.Regional Paediatric Nephro-Urology UnitSouthampton Children’s HospitalSouthamptonUK
  2. 2.Department of HistopathologySouthampton General HospitalSouthamptonUK
  3. 3.Biomedical Imaging UnitSouthampton General HospitalSouthamptonUK
  4. 4.Northern Molecular Genetics Service, International Centre for LifeNewcastle upon Tyne Hospitals NHS Foundation TrustNewcastleUK
  5. 5.Institute of Genetic MedicineNewcastle University, International Centre for LifeNewcastle upon TyneUK

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