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

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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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Authors and Affiliations

  1. Department of Clinical Medicine, Nephrology and Health Sciences, University Hospital of Parma, Parma, Italy

    Elisa Gnappi, Marco Allinovi, Augusto Vaglio, Landino Allegri & Lucio Manenti

  2. Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases, Aldo e Cele Dacco`, Ranica (Bergamo), Italy

    Elena Bresin & Annalisa Sorosina

  3. Department of Pathology and Laboratory Medicine, Section of Pathology, University Hospital of Parma, Parma, Italy

    Francesco P. Pilato

  4. Unità Operativa di Nefrologia, Azienda Ospedaliero-Universitaria di Parma, Via Gramsci 14, 43126, Parma, Italy

    Lucio Manenti

Authors
  1. Elisa Gnappi
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  2. Marco Allinovi
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  3. Augusto Vaglio
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  4. Elena Bresin
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  5. Annalisa Sorosina
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  6. Francesco P. Pilato
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  7. Landino Allegri
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  8. Lucio Manenti
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Correspondence to Lucio Manenti.

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Gnappi, E., Allinovi, M., Vaglio, A. et al. Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case. Pediatr Nephrol 27, 1995–1999 (2012). https://doi.org/10.1007/s00467-012-2210-0

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  • DOI: https://doi.org/10.1007/s00467-012-2210-0

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