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

Lookup NU author(s): Dr Katrina Wood, Dr Alison Brown, Professor David KavanaghORCiD, Dr Vicky Brocklebank



This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC 4.0).


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.

Publication metadata

Author(s): Dowen F, Wood K, Brown AL, Palfrey J, Kavanagh D, Brocklebank V

Publication type: Article

Publication status: Published

Journal: Clinical Kidney Journal

Year: 2017

Volume: 10

Issue: 4

Pages: 490-493

Print publication date: 01/08/2017

Online publication date: 08/05/2017

Acceptance date: 23/03/2017

Date deposited: 20/06/2017

ISSN (print): 2048-8505

ISSN (electronic): 2048-8513

Publisher: Oxford University Press


DOI: 10.1093/ckj/sfx030


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