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Published in: Pediatric Nephrology 10/2012

01-10-2012 | Brief Report

Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case

Authors: Elisa Gnappi, Marco Allinovi, Augusto Vaglio, Elena Bresin, Annalisa Sorosina, Francesco P. Pilato, Landino Allegri, Lucio Manenti

Published in: Pediatric Nephrology | Issue 10/2012

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Abstract

Background

Complement protein factor H (CFH) is a regulatory protein of the alternative complement pathway (AP); CFH mutations lead to a spectrum of different phenotypical manifestations of renal disease.

Case-Diagnosis/Treatment

We report the case of a boy with a novel CFH gene mutation who presented with a membranoproliferative (MPGN) pattern of glomerular injury and developed 2 years later atypical hemolytic uremic syndrome (aHUS); this description shows that CFH alteration leads to two different renal diseases in the same patient.

Conclusions

Our case suggests the possibility that complement dysregulation could determine different renal conditions, which may be part of the same disease spectrum. Early recognition of an evolution of glomerulopathies into aHUS may allow appropriate management and prevention of life-threatening consequences.
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Metadata
Title
Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case
Authors
Elisa Gnappi
Marco Allinovi
Augusto Vaglio
Elena Bresin
Annalisa Sorosina
Francesco P. Pilato
Landino Allegri
Lucio Manenti
Publication date
01-10-2012
Publisher
Springer-Verlag
Published in
Pediatric Nephrology / Issue 10/2012
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI
https://doi.org/10.1007/s00467-012-2210-0

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