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 | Samhar I Al-Akash, P Stephen Almond, Van H Savell Jr, Salam I Gharaybeh, Cris Hogue |
| Journal | Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 26 Issue 4 Pg. 613-9 (Apr 2011) ISSN: 1432-198X [Electronic] Germany |
| PMID | 21125405 (Publication Type: Case Reports, Journal Article) |
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