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Open Access 01-08-2012 | Original Article

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

Authors: Lianne M. Geerdink, Dineke Westra, Joanna A. E. van Wijk, Eiske M. Dorresteijn, Marc R. Lilien, Jean-Claude Davin, Martin Kömhoff, Koen Van Hoeck, Amerins van der Vlugt, Lambertus P. van den Heuvel, Nicole C. A. J. van de Kar

Published in: Pediatric Nephrology | Issue 8/2012

Abstract

Background

Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (αFH) with or without a homozygous deletion in CFH-related protein 1 and 3 (∆CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS).

Methods

Different mutations in genes encoding complement proteins in 45 pediatric aHUS patients were retrospectively linked with clinical features, treatment, and outcome.

Results

In 47% of the study participants, potentially pathogenic genetic anomalies were found (5xCFH, 4xMCP, and 4xC3, 3xCFI, 2xCFB, 6xαFH, of which five had ∆CFHR1/3); four patients carried combined genetic defects or a mutation, together with αFH. In the majority (87%), disease onset was preceeded by a triggering event; in 25% of cases diarrhea was the presenting symptom. More than 50% had normal serum C3 levels at presentation. Relapses were seen in half of the patients, and there was renal graft failure in all except one case following transplant.

Conclusions

Performing adequate DNA analysis is essential for treatment and positive outcome in children with aHUS. The impact of intensive initial therapy and renal replacement therapy, as well as the high risk of recurrence of aHUS in renal transplant, warrants further understanding of the pathogenesis, which will lead to better treatment options.

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Title: Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics
Authors: Lianne M. Geerdink
Dineke Westra
Joanna A. E. van Wijk
Eiske M. Dorresteijn
Marc R. Lilien
Jean-Claude Davin
Martin Kömhoff
Koen Van Hoeck
Amerins van der Vlugt
Lambertus P. van den Heuvel
Nicole C. A. J. van de Kar
Publication date: 01-08-2012
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 8/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-012-2131-y

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

Abstract

Background

Methods

Results

Conclusions

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Background

Methods

Results

Conclusions

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