Pediatric nephrology (Berlin, Germany) · 2012
Membrano-proliferative glomerulonephritis, atypical hemolytic uremic syndrome, and a new complement factor H mutation: report of a case.
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Gnappi Elisa, Allinovi Marco, Vaglio Augusto, Bresin Elena, Sorosina Annalisa, Pilato Francesco P, Allegri Landino, Manenti Lucio
Аннотация
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.
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.
Предметные рубрики MeSH
AdolescentAtypical Hemolytic Uremic SyndromeBiopsyComplement Factor HDNA Mutational AnalysisGenetic Predisposition to DiseaseGlomerulonephritis, MembranoproliferativeHemolytic-Uremic SyndromeHereditary Complement Deficiency DiseasesHumansImmunosuppressive AgentsKidney DiseasesMaleMutationPhenotypePlasma ExchangeTreatment Outcome