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.
MeSH terms
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Antibodies, Monoclonal, Humanized / therapeutic use*
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Atypical Hemolytic Uremic Syndrome
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Biomarkers / blood
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Biopsy
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Complement Factor B / genetics*
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Complement Membrane Attack Complex / metabolism
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Female
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Genetic Predisposition to Disease
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Hemolytic-Uremic Syndrome / diagnosis
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Hemolytic-Uremic Syndrome / drug therapy*
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Hemolytic-Uremic Syndrome / genetics
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Hemolytic-Uremic Syndrome / immunology
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Humans
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Immunologic Factors / therapeutic use*
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Infant
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L-Lactate Dehydrogenase / blood
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Mutation*
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Phenotype
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Treatment Outcome
Substances
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Antibodies, Monoclonal, Humanized
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Biomarkers
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Complement Membrane Attack Complex
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Immunologic Factors
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eculizumab
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L-Lactate Dehydrogenase
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Complement Factor B