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


METHODS
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.
Department of Clinical Medicine, Nephrology and Health Sciences, University Hospital of Parma, Parma, Italy.
Elisa
E
Gnappi
Marco
M
Allinovi
Augusto
A
Vaglio
Elena
E
Bresin
Annalisa
A
Sorosina
Francesco P
FP
Pilato
Landino
L
Allegri
Lucio
L
Manenti
D000293:Adolescent; D065766:Atypical Hemolytic Uremic Syndrome; D001706:Biopsy; D017242:Complement Factor H / Q000172:deficiency / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D015432:Glomerulonephritis, Membranoproliferative / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D000081208:Hereditary Complement Deficiency Diseases; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007674:Kidney Diseases / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D009154:Mutation; D010641:Phenotype; D010951:Plasma Exchange; D016896:Treatment Outcome
C493495:CFH protein, human; D007166:Immunosuppressive Agents; D017242:Complement Factor H