|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Here we address this in a factor H mutant mouse (FH<sup>R/R</sup>) which developed complement-mediated TMA as well as macrovascular thrombosis caused by an aHUS-related factor H point mutation (mouse W1206R, corresponding to human W1183R).
|
30910380 |
2019 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Using FH<sup>R/R</sup> mice carrying a factor H mutation that causes cell surface complement alternative pathway dysregulation, Ueda documented that in FH<sup>R/R</sup> mice, C5b-9 causes renal thrombotic microangiopathy (TMA) whereas C5a/C5aR drives macrovascular thrombosis.
|
31229026 |
2019 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
In 2013, eculizumab was approved for treatment of the atypical hemolytic-uremic syndrome (aHUS) in Japan, which was defined as a thrombotic microangiopathy (TMA) excluding Shiga toxin-producing Escherichia coli-HUS and thrombotic thrombocytopenic purpura.
|
30039480 |
2019 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To identify the cause of the thrombotic microangiopathy a molecular study was performed and a pathogenic variant in the MCP gene, c.287-2A>G (splice acceptor) in heterozygous state with a concomitant presence of both risk haplotypes, MCPggaac and Complement factor H (CFH)-H3 were identified.
|
30676336 |
2019 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Single-nucleotide polymorphisms and rare mutations in factor H (FH; official name, CFH) are associated with age-related macular degeneration and atypical hemolytic uremic syndrome, a form of thrombotic microangiopathy.
|
30711487 |
2019 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
In children, Shiga toxin-associated haemolytic uraemic syndrome due to infection with Escherichia coli (STEC-HUS) is the commonest cause of TMA, and is managed supportively.
|
29582550 |
2018 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
TTP and CM HUS are rare disorders, and their diagnosis may be missed, no less because features at presentation may be misdiagnosed as a pregnancy-related TMA, such as hypertension, proteinuria, fetal growth restriction, or in utero fetal death.
|
30177429 |
2018 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Subsequent tests revealed elevated serum levels of soluble C5b-9, and genetic testing revealed compound heterozygous c.184G > A (Val62Ile) and c.1204T > C (Tyr402His) single-nucleotide polymorphisms in complement factor H.We encountered a case of complement-mediated TMA accompanied by DIC, which was successfully treated with eculizumab.
|
28178155 |
2017 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
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 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Since complement activation and genetic variants in inhibitory complement factor H (CFH) are also features of both ARMD and TMA, we hypothesized that VEGF and CFH interact.
|
27918307 |
2017 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Pregnancy-related causes of AKI such as preeclampsia, acute fatty liver of pregnancy, HELLP (Hemolysis, Elevated Liver function tests, Low Platelets) syndrome, and the thrombotic microangiopathies (thrombotic thrombocytopenic purpura, atypical hemolytic-uremic syndrome [HUS]) exhibit overlapping features and often present as diagnostic dilemmas.
|
28711077 |
2017 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
For thrombotic microangiopathies (TMAs), the diagnosis of atypical hemolytic uremic syndrome (aHUS) is made by ruling out Shiga toxin-producing Escherichia coli (STEC)-associated HUS and ADAMTS13 activity-deficient thrombotic thrombocytopenic purpura (TTP), often using the exclusion criteria for secondary TMAs.
|
25951460 |
2015 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Conversely, CFH autoantibodies were not detected in 18 children undergoing HSCT who did not develop TMA.
|
23814021 |
2013 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Patients with LN class III, subclass IV-S and those with thrombotic microangiopathy had the lowest serum CFH.
|
22956549 |
2012 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Non-Shiga toxin-associated hemolytic uremic syndrome (atypical HUS) is a rare form of thrombotic microangiopathy that associates hemolytic anemia, thrombocytopenia, and acute renal failure.
|
20865640 |
2010 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy associated with mutations in complement proteins, most frequently in the main plasma alternative pathway regulator factor H (FH).
|
19351878 |
2009 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
To minimize complement activation and prevent thrombotic microangiopathy or overt thrombotic events due to the malfunctioning CFH, extensive PE with fresh frozen plasma was performed pre- and perioperatively and anticoagulation was started a few hours after the operation.
|
17973958 |
2008 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Diarrhea-negative HUS is associated with complement dysregulation in up to 50% of cases, caused by mutations in complement factor H, membrane cofactor protein, factor I or factor B, or by autoantibodies against factor H. The incomplete penetrance of mutations in either ADAMTS13 or complement regulatory genes suggests that precipitating events or triggers may be required to cause thrombotic microangiopathy in many patients.
|
18215115 |
2008 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Ocular TMA has never been reported in patients with factor H abnormalities.
|
17619907 |
2007 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Further studies are needed to determine the role of PCT in the pathogenesis of thrombotic microangiopathy associated to childhood D+ HUS.
|
16549533 |
2006 |
|
Thrombotic Microangiopathies
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Thrombotic microangiopathy, which includes thrombotic thrombocytopenic purpura (TTP), shiga-toxin-associated hemolytic uremic syndrome (Stx-HUS) and atypical HUS, is characterized by the development of hyaline thrombi in the microvasculature resulting in thrombocytopenia, microangiopathic hemolysis, and organ dysfunction.
|
16760911 |
2006 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
Factor H-associated hemolytic uremic syndrome (HUS) is a genetic form of thrombotic microangiopathy characterized by deficient factor H (HF-1) levels/activity and uncontrolled complement activation.
|
15816899 |
2005 |
|
Thrombotic Microangiopathies
|
0.100 |
Biomarker
|
group |
BEFREE |
By repetitive plasma infusions (20 mL/kg over about 2 to 3 hours) the authors were able to interrupt the vicious circle of thrombotic microangiopathy in a factor H-deficient patient with aHUS.
|
15685522 |
2005 |
|
Thrombotic Microangiopathies
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Recurrent haemolytic uraemic syndrome (HUS) is a genetic form of thrombotic microangiopathy that is mostly associated with low activity of complement factor H. The disorder usually develops in families, leads to end stage renal disease, and invariably recurs after kidney transplantation.
|
12020532 |
2002 |