Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report an uncommon case of familial MPGN type I associated with a new mutation in the complement factor H gene (CFH).
|
26289290 |
2015 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Clinical manifestations arising from CFH gene (CFH) abnormalities include hemolytic uremic syndrome and membranoproliferative glomerulonephritis.
|
22790979 |
2012 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Factor H autoantibodies in membranoproliferative glomerulonephritis.
|
22721707 |
2012 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A).
|
22388616 |
2012 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
This report of factor H-deficient patients emphasizes the diversity of the histologic lesions associated with factor H deficiencies and the role of the alternative pathway in several subtypes of membranoproliferative glomerulonephritis.
|
21396679 |
2011 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report three hypocomplementemic children with dense deposit disease (n=1) or immune-complex-mediated MPGN type I (n=2), associated with both C3NeF activity and heterozygous mutation of factor H or factor I.
|
21188423 |
2011 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis.
|
21270828 |
2011 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
The patient also had transient autoantibodies to factor H. The findings suggest that aHUS and glomerulopathy resembling membranoproliferative glomerulonephritis may have a common molecular background.
|
21810760 |
2011 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
X linked Alport syndrome is characterised by renal failure, hearing loss, lenticonus, and a central and peripheral dot-and-fleck retinopathy. complement factor H (CFH) gene variants are strongly associated with retinal drusen in macular degeneration and mesangiocapillary glomerulonephritis, and this study examines their role in the development of the Alport retinopathy.
|
19019939 |
2009 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
In TTP against ADAMTS 13, the vWF cleaving protease and in the DEAP-HUS (Deficient for CFHR1 and CFHR3 proteins and autoantibody positive) group against the major complement regulator Factor H. Autoantibodies in MPGN are termed C3 Nephritic Factor (C3NeF) and are directed against a neoepitope of the complement C3 convertase C3bBb.
|
19640589 |
2009 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis (MPGN).
|
18081690 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Abnormalities in factor H have been associated with renal disease, namely glomerulonephritis with C3 deposition including membranoproliferative glomerulonephritis (MPGN) and the atypical haemolytic uraemic syndrome (aHUS).
|
18190458 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis.
|
18336910 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Translational mini-review series on complement factor H: therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis.
|
18070148 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
LHGDN |
Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis.
|
18336910 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Factor H gene are associated with severe and diverse diseases including the rare renal disorders hemolytic uremic syndrome (HUS) and membranoproliferative glomerulonephritis (MPGN) also termed dense deposit disease (DDD), as well as the more frequent retinal disease age related macular degeneration (AMD).
|
19388168 |
2008 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Intriguingly, distinct genetic changes in factor H (FH), a key regulator of the alternative pathway, are associated with hemolytic uremic syndrome (HUS), membranoproliferative glomerulonephritis (dense deposit disease), or age-related macular degeneration (AMD).
|
17548524 |
2007 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mice with targeted deletion of CFH can spontaneously develop MPGN and have increased susceptibility to models of GN.
|
16919753 |
2007 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Additional mutations or polymorphisms within CFH have been associated with membranoproliferative glomerulonephritis (MPGN) and age-related macular degeneration (AMD).
|
17089378 |
2007 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations within factor H are also associated with membranoproliferative glomerulonephritis and age-related macular degeneration.
|
16575691 |
2006 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A homozygous mutation in complement control protein (CCP) domain 10 of factor H was identified in an adult man who first developed membranoproliferative glomerulonephritis and later HUS.C3 levels were very low.
|
16528247 |
2006 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Missense mutations in the C-terminal region of Factor H are associated with atypical hemolytic uremic syndrome, whereas homozygous Factor H deficiency is more frequently associated with membranoproliferative glomerulonephritis type II (MPGN II).The report of Licht et al. of a mutation in the complement-regulatory N-terminal region of Factor H in MPGN II provides additional insight into the pathogenesis of this condition.
|
16810287 |
2006 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a novel pathomechanism for membranoproliferative glomerulonephritis type II (MPGN II) caused by a mutant Factor H protein expressed in the plasma.
|
16612335 |
2006 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
GeneticVariation
|
disease |
LHGDN |
Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease).
|
16299065 |
2006 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
CTD_human |
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
|
14978182 |
2004 |