Rare genetic variants in Shiga toxin–associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential

  1. Lookup NU author(s)
  2. Dr Katrina Wood
  3. Dr Alison Brown
  4. Professor David Kavanagh
  5. Dr Vicky Brocklebank
Author(s)Dowen F, Wood K, Brown AL, Palfrey J, Kavanagh D, Brocklebank V
Publication type Article
JournalClinical Kidney Journal
IssueePub ahead of Print
ISSN (print)2048-8505
ISSN (electronic)2048-8513
Full text is available for this publication:
We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acuteEscherichia coli O157:H7 infection. She progressed to established renal failure and received a deceased donor kidney transplant.Shiga toxin–associated HUS (STEC-HUS) does not recur following renal transplantation, but unexpectedly this patient did experiencerapid and severe HUS recurrence. She responded to treatment with the terminal complement inhibitor eculizumaband subsequent genetic analysis revealed a rare variant in a complement gene. This highlights the importance of genetic analysisin patients with STEC-HUS prior to renal transplantation so thatmanagement can be individualized.
PublisherOxford University Press
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