|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A mouse model of HUS designed to mirror human mutations in FH has now been developed, providing new understanding of the molecular pathogenesis of complement-related endothelial disorders.
|
17548524 |
2007 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Abnormal control of the complement alternative pathway (CAP) (factor H, factor I and membrane cofactor protein (MCP) deficiencies) is a well established risk factor for the occurrence of haemolytic uraemic syndrome (HUS).
|
17018561 |
2007 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These effects explain how mutant factor H causes defective complement control and in HUS-particularly under condition of inflammation and complement activation-causes endothelial cell damage.
|
17229916 |
2007 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in factor H, membrane cofactor protein, and factor I are known to be associated with atypical HUS.
|
17593509 |
2007 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
It also is well established that mutations in the genes encoding the complement regulator proteins factor H, factor I, and membrane cofactor protein predispose to nondiarrheal HUS.
|
18295065 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.
|
18235085 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation.
|
18268093 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Homozygous chromosomal deletion of a genomic 84 kb, chromosomal fragment which includes the genes CFHR1/CFHR3 is a risk factor for hemolytic uremic syndrome (HUS) at young age and is predominantly associated with the generation of autoantibodies to CFH, leading to a specific type of HUS, called DEAP (deficiency of CFHR and autoantibody positive)-HUS.
|
19388158 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Genetic and acquired abnormalities in complement factor H (CFH) have been associated with two different human renal diseases: haemolytic uraemic syndrome and membrano proliferative glomerulonephritis.
|
18070148 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Screening for both factors is obviously relevant for HUS patients as reduction of CFH autoantibody levels represents a therapeutic option.
|
18006700 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H.
|
17973958 |
2008 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
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 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Important recent molecular and genetic insights into the pathogenesis of the three types of MPGN, of typical and atypical HUS and of TTP, i.e. dysregulation of the complement system, distinct molecular defects in C3 and factor H, the major regulatory protein of the alternative pathway of complement activation, and deficiency of a von Willebrand factor (VWF) -cleaving protease, i.e.ADAMTS13, are highlighted.
|
19190808 |
2009 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recently, a novel mechanism leading to atypical HUS (aHUS) was identified, in form of autoantibodies that bind the complement inhibitor Factor H. Here we summarize the current concept of HUS and focus in particular on the novel subgroup of aHUS patients with IgG autoantibodies to Factor H which develop on the genetic background of CFHR1/CFHR3 deficiency, and which define a new subform termed DEAP-HUS (deficient for CFHR proteins and Factor H autoantibody positive).
|
19190803 |
2009 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We report a 7-month-old boy with HUS, severe hypocomplementemia (low C3 and normal C4 levels), and extremely low circulating levels of factor H. Genetic analysis showed homozygous 4 bp deletion in the gene encoding factor H in the patient, with his parents being carriers.
|
19568827 |
2009 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome.
|
19005013 |
2009 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The association of B. pertussis infection and HUS has previously been described in a patient with a mutation in the gene encoding complement factor H (CFH).
|
20145955 |
2010 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS.
|
20865640 |
2010 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
In addition autoimmune forms, with acquired, de-novo generated inhibitors in the form of autoantibodies exist for both disorders, affecting ADAMTS13 in TTP or the central complement inhibitor factor H in HUS.
|
20539230 |
2010 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
DEAP-HUS (deficiency of CFHR plasma proteins and factor H [FH] autoantibody positive hemolytic uremic syndrome [HUS]) is a new form of HUS characterized by a deletion of genes coding for FH-related proteins and the presence of autoantibodies directed to FH.
|
20865639 |
2010 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a 4-year-old boy, diagnosed with atypical hemolytic uremic syndrome (HUS) due to a hybrid factor H. He progressed to end-stage renal failure despite plasmatherapy and underwent bilateral nephrectomy because of uncontrolled hypertension.
|
20714753 |
2010 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thus, exogenous CFHR1 provided during plasma exchange therapy may neutralize anti-factor H autoantibodies and help in the treatment of autoimmune atypical HUS.
|
21677636 |
2011 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Anti-factor H antibodies-HUS has favourable outcome if treated early.
|
21902819 |
2011 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
We report here a rare case of atypical HUS due to anti-FH antibody presenting with a coagulation factor XII deficiency.
|
21271273 |
2011 |
|
Hemolytic-Uremic Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this study, mostly weakly significant associations with homozygosities of complement allotype C7 M and inversely with factor H 402H were found, suggesting that 402Y and C7 M allotypes predispose to (typical) haemolytic uraemic syndrome.
|
21649859 |
2011 |