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Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation

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Abstract

A 15-year-old male patient developed atypical hemolytic uremic syndrome (aHUS) at 16 months of age leading to end-stage renal disease. The family history was suggestive of autosomal dominant aHUS, and he was more recently found to have a C3 heterozygous gene mutation (1835C>T mutation in exon 14, which determines the amino-acidic substitution R570W) with no other complement abnormalities. He had two renal transplants, the first at 2.5 years, and the second at 8 years of age, but allograft dysfunction developed in both transplants leading to graft failure due to recurrent HUS at 5 years and 18 months post-transplantation respectively. At 15 years of age he received a third transplant from a deceased donor with pre-emptive plasmapheresis. He had immediate graft function and nadir serum creatinine was 1.3–1.4 mg/dl. Severe allograft dysfunction and hypertension developed 2 months after transplantation following influenza infection. Renal allograft biopsy showed thrombotic microangiopathy. He received plasmapheresis followed by eculizumab therapy. Allograft function returned to baseline 3 weeks after starting therapy, and post-treatment allograft biopsies showed improvement in thrombotic microangiopathy. He continues to receive eculizumab every 2 weeks with stable graft function 13 months after transplantation.

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Authors and Affiliations

  1. Division of Pediatric Nephrology, Driscoll Children’s Hospital, Corpus Christi, TX, 78411, USA

    Samhar I. Al-Akash & Salam I. Gharaybeh

  2. Department of Surgery and Transplantation, Driscoll Children’s Hospital, Corpus Christi, TX, USA

    P. Stephen Almond

  3. Department of Pathology and Laboratory Medicine, Driscoll Children’s Hospital, Corpus Christi, TX, USA

    Van H. Savell Jr

  4. Pharmacy Department, Driscoll Children’s Hospital, Corpus Christi, TX, USA

    Cris Hogue

Authors
  1. Samhar I. Al-Akash
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  2. P. Stephen Almond
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  3. Van H. Savell Jr
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  4. Salam I. Gharaybeh
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  5. Cris Hogue
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Correspondence to Samhar I. Al-Akash.

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Al-Akash, S.I., Almond, P.S., Savell, V.H. et al. Eculizumab induces long-term remission in recurrent post-transplant HUS associated with C3 gene mutation. Pediatr Nephrol 26, 613–619 (2011). https://doi.org/10.1007/s00467-010-1708-6

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