|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic variants and abnormal rearrangements involving the FH protein family have been linked to numerous systemic and organ-specific diseases, including age-related macular degeneration, and the renal pathologies atypical hemolytic uremic syndrome, C3 glomerulopathies, and IgA nephropathy.
|
30050540 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The clinical courses of four kidney allograft recipients who lost their native kidney functions due to aHUS associated with a CFH mutation were reviewed.
|
29215813 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
It is usually in the setting of calcineurin inhibitor use, mammalian target of rapamycin inhibitor use, or antibody mediated rejection; recently genetic mutations in complement regulatory genes for Factor H and Factor I similar to those described in aHUS have been reported in up to a third of these patients.
|
29157988 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although early confirmation of aHUS is often not possible, except in the minority of patients in whom auto-antibodies against factor H are identified, genetic testing ultimately reveals a complement-related mutation in a significant proportion of aHUS cases.
|
29582550 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
This study included 70 children with extrarenal manifestations of HUS from the national Turkish aHUS Registry.
|
29610995 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We tested 32 Indian patients of aHUS negative for antibodies to complement factor H for genetic variations in a panel of 15 genes, i.e., CFH, CFHR1-5, CFI, CFB, C3, CD46, MASP2, DGKE, ADAMTS13, THBD and PLG using next-generation DNA sequencing and for copy number variation in CFHR1-3.
|
28939980 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The data also reinforce the genotype-phenotype correlations that associate specific FH functional alterations with either aHUS or C3G and illustrate important drawbacks of the prediction algorithms dealing with variants located in FH functional regions.
|
28941939 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
To investigate the clinical utility of a 9-analyte complement serology panel (COMS) covering complement function (CH50 and AH50), components (C3, C4), factor B (CFB), factor H, and activation markers (C4d, Bb, and soluble membrane attack complex) for the diagnosis of atypical hemolytic uremic syndrome (aHUS).
|
30286829 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Anti-P mAb-treated FH<sup>R/R</sup> mice showed largely normal renal histology, and residual liver thrombi were detected in only three of 15 treated mice.<b>Conclusions</b> These results contrast with the detrimental effect of P inhibition observed in a murine model of C3 glomerulopathy and suggest that P contributes critically to aHUS pathogenesis.
|
29858280 |
2018 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We observed a similar extent of autoantibody binding to the aHUS-specific epitope aa1177-1191 on FH and aa276-290 on CFHR1, despite seven of our patients being deficient for CFHR1.
|
28424685 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis.
|
28744369 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a patient, initially diagnosed with chronic glomerulonephritis, possibly C3G, and who 6 years later had an episode of aHUS, a heterozygous missense mutation leading to a tryptophan to arginine exchange (W198R) in the factor H (FH) complement control protein (CCP) 3 domain has previously been identified.
|
29321782 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
This review summarizes the more recent years of research on SAMP recognition by FH from a structural biology point of view and discusses implications for two complement-associated conditions, age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (aHUS).
|
28189794 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of neonatal onset aHUS caused by a novel mutation of CFH and treated with an isolated liver transplantation at the age of 24 months.
|
28502324 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FH and MCP are linked to atypical hemolytic uremic syndrome, a type of thrombotic microangiopathy (TMA) that causes renal failure.
|
28057640 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
This glycosylation-optimized factor H showed full <i>in vitro</i> complement regulatory activity similar to that of plasma-derived factor H and efficiently blocked LPS-induced alternative pathway activation and hemolysis induced by sera from patients with atypical hemolytic uremic syndrome.
|
27932477 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we examined 175 children presenting with atypical hemolytic uremic syndrome in the United Kingdom and Ireland for factor H autoantibodies that included 17 children with titers above the international standard.
|
28750931 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
In both infection-induced HUS and aHUS patients, complement is activated in the acute phase of the disease but not during remission.
|
27718086 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To address this, we expressed human CFH mutants in <i>Pichia pastoris</i> We found that recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I cofactor activity (CA).
|
28637873 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we screened 11 complement genes from 91 patients with atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G) and membranoproliferative glomerulonephritis type I (MPGN I), and identified the concomitant presence of three missense variations located within the human complement Factor H (CFH) gene cluster.
|
28729648 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, flow cytometry assays were used to evaluate the effects of aHUS-related mutations on FH regulation of PGA formation and characterize the mechanism.
|
29218045 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We monitored complement inhibition in 16 eculizumab-treated patients suffering from HUS or transplant rejection (not aHUS patients).
|
28647502 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
16 patients carried a pathogenic or likely pathogenic variant in genes encoding complement factor H, C3, or membrane cofactor protein, giving a high risk for aHUS recurrence.
|
28821363 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dense deposit disease and atypical hemolytic uremic syndrome are often caused by Complement Factor H (CFH) mutations.
|
26915021 |
2016 |
|
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in at least five complement genes coding for complement factor H (CFH) complement factor I (CFI), MCP (CD46), C3 and complement factor B (CFB) have been demonstrated to increase the risk of developing aHUS, but several more genes have been implicated.
|
27177491 |
2016 |