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

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.

• Authors: Elisa Gnappi, Marco Allinovi, Augusto Vaglio, Elena Bresin, Annalisa Sorosina, Francesco P Pilato, Landino Allegri, Lucio Manenti
• Journal: Pediatric nephrology (Berlin, Germany) (Pediatr Nephrol) Vol. 27 Issue 10 Pg. 1995-9 (Oct 2012) ISSN: 1432-198X [Electronic] Germany
• PMID: 22669321 (Publication Type: Case Reports, Journal Article)

Chemical References

• CFH protein, human
• Immunosuppressive Agents
• Complement Factor H

Topics

• Adolescent
• Atypical Hemolytic Uremic Syndrome
• Biopsy
• Complement Factor H (deficiency, genetics, immunology)
• DNA Mutational Analysis
• Genetic Predisposition to Disease
• Glomerulonephritis, Membranoproliferative (diagnosis, genetics, immunology, therapy)
• Hemolytic-Uremic Syndrome (diagnosis, genetics, immunology, therapy)
• Hereditary Complement Deficiency Diseases
• Humans
• Immunosuppressive Agents (therapeutic use)
• Kidney Diseases (complications, diagnosis, genetics, immunology)
• Male
• Mutation
• Phenotype
• Plasma Exchange
• Treatment Outcome