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10.1093/ckj/sfw132

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suck abstract from ncbi


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pmid28744369
      Clin+Kidney+J 2017 ; 10 (2 ): 263-265
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  • Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis #MMPMID28744369
  • Collett J ; Mallawaarachchi A ; Fischer E ; Komala MG ; Sud K ; Bose B
  • Clin Kidney J 2017[Apr]; 10 (2 ): 263-265 PMID28744369 show ga
  • 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.
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