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Updated: Feb 25, 2026

Methods for Quantitative Detection of Antibody-induced Complement Activation on Red Blood Cells
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Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute

James Collett1, Amali Mallawaarachchi2, Eddy Fischer1

  • 1Department of Renal Medicine, Nepean Hospital, Kingswood, NSW, Australia.

Clinical Kidney Journal
|July 27, 2017
PubMed

We describe the clinical course and response to treatment of atypical haemolytic uraemic syndrome (aHUS) in two sisters presenting to our hospital 6 years apart with a novel complement factor H mutation that has not been described previously in literature and demonstrates the genetic complexity of this ultra-rare disease. The contrast in course and outcome of disease between the two sisters highlights the rapid evolution of management of aHUS, the importance of rapidly establishing a diagnosis, and how minimizing time to eculizumab therapy significantly reduces associated morbidity and mortality.

Keywords:
AKIcomplementdialysisgene expressionthrombotic microangiopathy

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