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

We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acute Escherichia 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 foll...

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Autores principales: Dowen, Frances, Wood, Katrina, Brown, Alison L., Palfrey, Jennifer, Kavanagh, David, Brocklebank, Vicky
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Genetic Kidney Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569917/
https://www.ncbi.nlm.nih.gov/pubmed/28852487
http://dx.doi.org/10.1093/ckj/sfx030
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author Dowen, Frances
Wood, Katrina
Brown, Alison L.
Palfrey, Jennifer
Kavanagh, David
Brocklebank, Vicky
author_facet Dowen, Frances
Wood, Katrina
Brown, Alison L.
Palfrey, Jennifer
Kavanagh, David
Brocklebank, Vicky
author_sort Dowen, Frances
collection PubMed
description We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acute Escherichia 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 experience rapid and severe HUS recurrence. She responded to treatment with the terminal complement inhibitor eculizumab and subsequent genetic analysis revealed a rare variant in a complement gene. This highlights the importance of genetic analysis in patients with STEC-HUS prior to renal transplantation so that management can be individualized.
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spelling pubmed-55699172017-08-29 Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential Dowen, Frances Wood, Katrina Brown, Alison L. Palfrey, Jennifer Kavanagh, David Brocklebank, Vicky Clin Kidney J Genetic Kidney Disease We present a case of haemolytic uraemic syndrome (HUS) in a 16-year-old female with serological evidence of acute Escherichia 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 experience rapid and severe HUS recurrence. She responded to treatment with the terminal complement inhibitor eculizumab and subsequent genetic analysis revealed a rare variant in a complement gene. This highlights the importance of genetic analysis in patients with STEC-HUS prior to renal transplantation so that management can be individualized. Oxford University Press 2017-08 2017-05-08 /pmc/articles/PMC5569917/ /pubmed/28852487 http://dx.doi.org/10.1093/ckj/sfx030 Text en © The Author 2017. Published by Oxford University Press on behalf of ERA-EDTA. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Genetic Kidney Disease
Dowen, Frances
Wood, Katrina
Brown, Alison L.
Palfrey, Jennifer
Kavanagh, David
Brocklebank, Vicky
Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title_full Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title_fullStr Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title_full_unstemmed Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title_short Rare genetic variants in Shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
title_sort rare genetic variants in shiga toxin-associated haemolytic uraemic syndrome: genetic analysis prior to transplantation is essential
topic Genetic Kidney Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5569917/
https://www.ncbi.nlm.nih.gov/pubmed/28852487
http://dx.doi.org/10.1093/ckj/sfx030
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