|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The discovery of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13) and its utility in the diagnosis of thrombotic thrombocytopenic purpura (TTP) has resulted in the appreciation that cases of aHUS have been inappropriately diagnosed as TTP.
|
31198222 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Severe deficiency of plasma ADAMTS13 activity is the primary cause of thrombotic thrombocytopenic purpura (TTP) whereas overwhelming activation of complement via an alternative pathway results in atypical hemolytic uremic syndrome (aHUS), the prototypes of thrombotic microangiopathy (TMA).
|
31409673 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
CD36 may be a candidate gene act as disease modifier for aHUS through the contribution of thrombosis by impairing the interaction with TSP-1 and ADAMTS 13 shown in simulation model.
|
30905589 |
2019 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
GeneticVariation
|
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
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Normal to moderately reduced plasma ADAMTS-13 activity (> 10 IU dL<sup>-1</sup> ) in a similar clinical context supports an alternative diagnosis such as atypical hemolytic uremic syndrome (aHUS) or other types of TMA.
|
28662310 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
New criteria to diagnose preeclampsia, judicious reliance on measurement of ADAMTS13 to make management decisions in suspected thrombotic thrombocytopenic purpura, new evidence supporting the efficacy and safety of anticomplement therapy for atypical hemolytic uremic syndrome during pregnancy, and implications of thrombotic microangiopathies for subsequent pregnancies are evolving rapidly.
|
28637667 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
ADAMTS13 was low which is >10% of normal, and a diagnosis of atypical haemolytic-uraemic syndrome (aHUS) was made.
|
29084740 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
New criteria to diagnose preeclampsia, judicious reliance on measurement of ADAMTS13 to make management decisions in suspected thrombotic thrombocytopenic purpura, new evidence supporting the efficacy and safety of anticomplement therapy for atypical hemolytic uremic syndrome during pregnancy, and implications of thrombotic microangiopathies for subsequent pregnancies are evolving rapidly.
|
29222249 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Indications of underdiagnosis of atypical haemolytic uraemic syndrome in a cohort referred to the Coagulation Unit in Malmo, Sweden, for analysis of ADAMTS13 2007-2012.
|
27175932 |
2017 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
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 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The classic TMA, thrombotic thrombocytopenic purpura (TTP) is caused by a severe deficiency of ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type-I motif, member 13), mostly acquired due to autoantibodies, whereas atypical hemolytic uremic syndrome (aHUS) is mostly attributed to genetic defects in complement pathway regulatory proteins.
|
26276936 |
2015 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
These linkages may help to explain enigmatic clinical problems related to thrombotic microangiopathies, including some cases of refractory thrombotic thrombocytopenic purpura (TTP), TTP associated with only mild-modest deficiencies of ADAMTS-13, the provocation (or exacerbation) of acute episodes in patients with the atypical hemolytic uremic syndrome, and thrombosis in paroxysmal nocturnal hemoglobinuria.
|
24967890 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The clinical phenotypes of 12 patients in nine families with aHUS with familial or recurrent onset and ADAMTS13 activity of ≥20 % treated at the Mie University Hospital were examined.
|
25135378 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
With this new knowledge and the findings of ADAMTS13 autoinhibitors or mutations in TTP, it is time to redefine aHUS as a disorder with propensity to the development of thrombotic microangiopathy due to defective regulation of the alternative complement pathway and TTP as a disorder with propensity to arteriolar and capillary thrombosis due to ADAMTS13 deficiency.
|
25280590 |
2014 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Complement-mediated aHUS is distinct from bacterial shiga-toxin (produced e.g. by E. coli O:157 or O:104 serotypes) induced "typical" HUS, thrombotic thrombocytopenic purpura (TTP) associated with ADAMTS13 (an adamalysin enzyme) dysfunction and from a recently described disease related to mutations in intracellular diacylglycerol kinase ε (DGKE).
|
23743117 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We concluded that partial ADAMTS13 deficiency is a common finding in aHUS patients and that genetic screening and functional tests of ADAMTS13 should be considered in these patients.
|
23847193 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Thrombotic microangiopathies can be associated with defective regulation of the AP (atypical hemolytic-uremic syndrome) or with inadequate cleavage by ADAMTS-13 of ULVWF multimeric strings secreted by/anchored to ECs (thrombotic thrombocytopenic purpura).
|
23555663 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The increased awareness and availability of ADAMTS13 testing has also made it possible to detect atypical presentations of TTP such as patients with macrovascular neurological symptoms without accompanying hematological findings as well as help diagnose other causes of thrombotic microangiopathies e.g. atypical hemolytic uremic syndrome.
|
23420593 |
2013 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The last few years revealed a molecular distinction between thrombotic thrombocytopenic purpura, a disease characterized by a lack of ADAMTS13 activity, and atypical hemolytic uremic syndrome (aHUS), a disease of complement overactivation.
|
20613506 |
2010 |
|
Atypical Hemolytic Uremic Syndrome
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Severe deficiency of the specific von Willebrand factor-cleaving protease (ADAMTS 13) activity in a subgroup of children with atypical hemolytic uremic syndrome.
|
12640381 |
2003 |