Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.
|
28993505 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
A 3-month-old male infant developed an extremely severe episode of atypical hemolytic uremic syndrome (aHUS) associated with partial deficiencies of full-length complement factor H (FH; ∼15% of infant normal) and a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) (39% of normal) and autoantibodies reactive with both proteins.
|
30524124 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Structural variation and single-nucleotide variation of the complement factor H (<i>CFH</i>) gene family underlie several complex genetic diseases, including age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (AHUS).
|
29686068 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Until recently, atypical hemolytic uremic syndrome (aHUS), conventionally defined in the pediatric literature as a syndrome of the triad of renal failure, microangiopathic hemolytic anemia, and thrombocytopenia without a prodrome of hemorrhagic diarrhea, has received little attention in adult practice because the patients are commonly given the diagnosis of thrombotic thrombocytopenic purpura (TTP) or TTP/HUS and treated as TTP with plasma exchange, augmented in refractory cases with rituximab and sometimes even splenectomy.
|
25280590 |
2014 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The SCR-16/20 site is novel and indicates the importance of the FH-CRP interaction for both age-related macular degeneration and atypical hemolytic uremic syndrome.
|
19850925 |
2010 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Neonatal atypical hemolytic uremic syndrome from a factor H mutation treated with eculizumab.
|
25816809 |
2015 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.
|
22019782 |
2011 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this setting, a silent polymorphism of factor H may be responsible for these rare cases of "de novo" aHUS after transplantation.
|
25538218 |
2014 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Five patients (one of them heterozygous for a CFH mutation) carried, in homo- or heterozygosity, the risk haplotype CFH-H3 (CFH tgtgt), previously described to be associated with aHUS, while another one patient was homozygous for the MCPggaac risk haplotype predisposing to aHUS when present on both alleles.
|
23787552 |
2013 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts.
|
15784724 |
2005 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The use of plasma exchange to replace non-functioning complement regulators and hyper-functional complement components in addition to the removal of CFH-autoantibodies made this the 'gold-standard' for management of aHUS.
|
23810412 |
2013 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
The autoimmune form of atypical hemolytic uremic syndrome (HUS) is characterized by circulating autoantibodies against the complement regulator factor H, and is often associated with deficiency of the factor H-related proteins CFHR1 and CFHR3.
|
21677636 |
2011 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Atypical Hemolytic Uremic Syndrome Associated with Complement Factor H Mutation and IgA Nephropathy: A Case Report Successfully Treated with Eculizumab.
|
29241200 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Successful isolated liver transplantation in a child with atypical hemolytic uremic syndrome and a mutation in complement factor H.
|
20738267 |
2010 |
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 |
Biomarker
|
disease |
BEFREE |
Notably, deficiency of CFHR1/CFHR3 associates with protection against age-related macular degeneration and with the presence of anti-fH autoantibodies in atypical hemolytic uremic syndrome (aHUS).
|
19745068 |
2009 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We have previously shown that haplotype <i>CFH(H3)-CFHR3*B-CFHR1*B</i> associates with aHUS and reduced FH levels.
|
29740447 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a male patient with aHUS due to complement factor H gene mutation who was shifted from plasmatherapy to eculizumab for preventing disease relapses.
|
24843058 |
2014 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two of the patients also had a heterozygous non-synonymous alteration in factor H (p.Q950H), reported previously in aHUS but not functionally tested.
|
25733390 |
2015 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
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 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
In summary, mutated FH enables complement activation on the surface of platelets and their activation, which may contribute to the development of thrombocytopenia in aHUS.
|
18268093 |
2008 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We present a teaching case of atypical hemolytic uremic syndrome in the postpartum period in a young woman who was found to have mutations of uncertain clinical significance in the complement cascade, including in C3, CFH, and CFI.
|
29331477 |
2018 |
Atypical Hemolytic Uremic Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Genetic deficiencies and autoantibodies of CFH may lead to alternative pathway overactivation and participated in the pathogenesis of postpartum aHUS.
|
26011580 |
2015 |
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 |
Novel complement factor H gene mutation causing atypical haemolytic uraemic syndrome: early Eculizumab prevents acute dialysis.
|
28744369 |
2017 |