Browse by author
Lookup NU author(s): Dr Patrick Walsh, Dr Sally Johnson, Dr Vicky Brocklebank, Dr Jacobo Salvatore, Professor David KavanaghORCiD
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
A four-year-old boy presented with non-immune hemolysis, thrombocytopenia and acute kidney injury. Investigations for an underlying etiology failed to identify a definitive cause and a putative diagnosis of complement-mediated atypical hemolytic uremic syndrome (aHUS) was made. The patient was commenced initially on plasma exchange and subsequently eculizumab, after which his renal function rapidly improved. Whilst on eculizumab, despite adequate complement blockade, he represented twice with hemolytic anemia and thrombocytopenia, but without renal involvement. Genetic analysis did not uncover a mutation in any known aHUS gene (CFH, CFI, CFB, C3, CD46, THBD, INF2 and DGKE) and anti-factor H antibodies were negative. Whole exome sequencing was undertaken to identify a cause for the eculizumab resistance, this revealed a pathogenic variant in G6PD (Glucose 6 Phosphate Dehydrogenase); which was confirmed by functional analysis demonstrating decreased erythrocyte G6PD activity levels. Eculizumab was withdrawn. Complement-mediated aHUS is a diagnosis of exclusion and this case highlights the diagnostic difficulty that remains without an immediately available biomarker for confirmation. This case of G6PD deficiency presented with a phenotype clinically indistinguishable from complement-mediated aHUS. We recommend G6PD deficiency is included in the differential diagnosis of patients presenting with aHUS and suggest measuring erythrocyte G6PD levels in these patients.
Author(s): Walsh PR, Johnson S, Brocklebank V, Salvatore J, Christian M, Kavanagh D
Publication type: Article
Publication status: Published
Journal: American Journal of Kidney Diseases
Year: 2018
Volume: 71
Issue: 2
Pages: 287-290
Print publication date: 01/02/2018
Online publication date: 13/12/2017
Acceptance date: 11/08/2017
Date deposited: 11/08/2017
ISSN (print): 0272-6386
ISSN (electronic): 1523-6838
Publisher: Elsevier
URL: https://doi.org/10.1053/j.ajkd.2017.08.007
DOI: 10.1053/j.ajkd.2017.08.007
Altmetrics provided by Altmetric
