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

doi:10.1007/s00467-013-2492-x

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

Rodney D. Gilbert (Lead / Corresponding author)
, Darren J. Fowler
, Elizabeth Angus
, Stephen A. Hardy
, Louise Stanley
, Timothy H. Goodship

Research output: Contribution to journal › Article › peer-review

21 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1315-1318
Number of pages	4
Journal	Pediatric Nephrology
Volume	28
Issue number	8
Early online date	28 Apr 2013
DOIs	https://doi.org/10.1007/s00467-013-2492-x
Publication status	Published - Aug 2013

Keywords

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

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Nephrology

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10.1007/s00467-013-2492-x

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

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, Complement activation, Complement factor B, Eculizumab, Gain-of-function mutation",

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AU - Gilbert, Rodney D.

AU - Fowler, Darren J.

AU - Angus, Elizabeth

AU - Hardy, Stephen A.

AU - Stanley, Louise

AU - Goodship, Timothy H.

PY - 2013/8

Y1 - 2013/8

N2 - 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.

AB - 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.

KW - Atypical haemolytic uraemic syndrome

KW - Complement activation

KW - Complement factor B

KW - Eculizumab

KW - Gain-of-function mutation

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

Abstract

Keywords

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