Eculizumab therapy for atypical haemolytic uraemic syndrome due to a gain-of-function mutation of complement factor B
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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
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.
Eculizumab is effective therapy for aHUS associated with factor B mutations, but recommended doses may not be adequate for all patients.
KeywordsAtypical haemolytic uraemic syndrome Eculizumab Complement factor B Gain-of-function mutation Complement activation
Drs. MR Haq, A Nagra and MJ Harmer are thanked for their clinical contributions.
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