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 |
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 |
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 |
Biomarker
|
disease |
MGD |
Here we show that mice deficient in factor H (Cfh(-/-) mice) develop MPGN spontaneously and are hypersensitive to developing renal injury caused by immune complexes.
|
12091909 |
2002 |
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 |
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 |
Glomerulonephritis, Membranoproliferative
|
0.600 |
Biomarker
|
disease |
BEFREE |
Nephritic factors are autoantibodies that bind to the C3b-dependent convertase and render it resistant to dissociation by factor H. Although nephritic factors are currently considered epiphenomena, their role in the pathogenesis of membranoproliferative glomerulonephritis should be reconsidered based on the evidence that circulating convertase is nephritogenic.
|
7985676 |
1994 |
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 |
Biomarker
|
disease |
BEFREE |
Clinical manifestations arising from CFH gene (CFH) abnormalities include hemolytic uremic syndrome and membranoproliferative glomerulonephritis.
|
22790979 |
2012 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.
|
14978182 |
2004 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |