scholarly journals Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome

Blood ◽  
2013 ◽  
Vol 122 (8) ◽  
pp. 1487-1493 ◽  
Author(s):  
Shuju Feng ◽  
Stephen J. Eyler ◽  
Yuzhou Zhang ◽  
Tara Maga ◽  
Carla M. Nester ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Gene Polymorphisms ◽  
Rare Variants ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Number Of Patients ◽  
Complement Dysregulation ◽  
Key Points ◽  
Uremic Syndrome ◽  
Adamts13 Deficiency

Key Points Reduction in ADAMTS13 function and complement dysregulation coexist in a significant number of patients with aHUS. Variations in the ADAMTS13 gene (polymorphisms and rare variants) are partly responsible for the reduced ADAMTS13 function in aHUS.

scholarly journals Modified Ham test for atypical hemolytic uremic syndrome

Blood ◽  
2015 ◽  
Vol 125 (23) ◽  
pp. 3637-3646 ◽  
Author(s):  
Eleni Gavriilaki ◽  
Xuan Yuan ◽  
Zhaohui Ye ◽  
Alexander J. Ambinder ◽  
Satish P. Shanbhag ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Cell Lines ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Cell Killing ◽  
Thrombotic Microangiopathies ◽  
Gpi Anchor ◽  
Deficient Cell ◽  
Key Points ◽  
Uremic Syndrome

Key Points GPI-anchor–deficient cell lines are more vulnerable to complement C5b-9 deposition and cell killing from aHUS serum. PIGA-null reagent cell lines can be used to rapidly and reliably distinguish aHUS from other thrombotic microangiopathies.

scholarly journals Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome

Blood ◽  
2015 ◽  
Vol 125 (15) ◽  
pp. 2359-2369 ◽  
Author(s):  
Elizabeth C. Schramm ◽  
Lubka T. Roumenina ◽  
Tania Rybkine ◽  
Sophie Chauvet ◽  
Paula Vieira-Martins ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Binding Sites ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Regulatory Proteins ◽  
Complement C3 ◽  
Renal Outcome ◽  
Protein Surface ◽  
Complement Regulation ◽  
Key Points ◽  
Uremic Syndrome

Key Points C3 mutations in aHUS commonly result in impaired complement regulation, C3 consumption, and a poor renal outcome. C3 mutations tend to cluster at the protein surface and facilitate mapping of putative binding sites for the regulatory proteins.

Genetic changes predisposing to complement dysregulation and infection may play role in a case of atypical hemolytic uremic syndrome

Immunobiology ◽  
2016 ◽  
Vol 221 (10) ◽  
pp. 1140
Author(s):  
Elena Volokhina ◽  
Omaima El Tahir ◽  
Martin Kömhoff ◽  
Servaas Morre ◽  
Marceline van Furth ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Genetic Changes ◽  
Complement Dysregulation ◽  
Uremic Syndrome

scholarly journals Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

Blood ◽  
2008 ◽  
Vol 112 (13) ◽  
pp. 4948-4952 ◽  
Author(s):  
Veronique Frémeaux-Bacchi ◽  
Elizabeth C. Miller ◽  
M. Kathryn Liszewski ◽  
Lisa Strain ◽  
Jacques Blouin ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement C3 ◽  
Central Component ◽  
Factor B ◽  
Factor I ◽  
Complement Dysregulation ◽  
Genes Encoding ◽  
Uremic Syndrome

Abstract Atypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS.

scholarly journals New perspectives on the approach to patients with atypical Hemolytic Uremic Syndrome candidates for renal transplantation

2021 ◽  
Vol 35 (3) ◽  
Author(s):  
Ana Figueiredo ◽  
◽  
Nuno Oliveira ◽  
Catarina Romãozinho ◽  
Helena Sá ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Renal Transplantation ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Recurrence Risk ◽  
End Stage Kidney Disease ◽  
Post Transplant ◽  
Complement Dysregulation ◽  
Uremic Syndrome ◽  
End Stage

Atypical hemolytic uremic syndrome (aHUS) is one of the most challenging diseases for a nephrologist, with high rates of progression to end- -stage kidney disease (ESKD) and post-transplant recurrence. Complement dysregulation has been found in up to 70% of cases, which can be hereditary or acquired. Over the last few years, knowledge of the pathogenesis of aHUS has greatly increased, with the unravelling of the complement’s role, providing not only the chance for individualized post-transplant recurrence risk assessment, but also the possibility of a highly effective treatment through pharmacological C5-9 blockade with eculizumab. The overall outcome and prognosis of patients with aHUS has dramatically improved since the approval of this drug in 2011, allowing renal transplant to be a much safer option for these patients. Our aim was to present a proposal for the management of patients with aHUS, candidates for renal transplantation, in the light of the most recent studies.

scholarly journals Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects

2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
Fengxiao Bu ◽  
Nicolo Borsa ◽  
Ardissino Gianluigi ◽  
Richard J. H. Smith
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Response To Therapy ◽  
Clinical Aspects ◽  
First Line Therapy ◽  
Complement Dysregulation ◽  
Disease Penetrance ◽  
The Usa ◽  
Uremic Syndrome ◽  
Genetic Level

Atypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases) and familial (20% of cases) forms are recognized. The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease. This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level. It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms.

scholarly journals Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome

Blood ◽  
2016 ◽  
Vol 127 (22) ◽  
pp. 2701-2710 ◽  
Author(s):  
Satu Hyvärinen ◽  
Seppo Meri ◽  
T. Sakari Jokiranta
Keyword(s):  
Endothelial Cells ◽  
Sialic Acid ◽  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Sialic Acids ◽  
Factor H ◽  
Complement Regulation ◽  
Impaired Ability ◽  
Key Points ◽  
Uremic Syndrome

Key Points Sialic acids are critical for factor H–mediated complement regulation on endothelial cells, erythrocytes, and platelets. Impaired ability of factor H mutants to simultaneously bind sialic acid and C3b on cells explains their association with aHUS.

scholarly journals Prevention of large-vessel stenoses in atypical hemolytic uremic syndrome associated with complement dysregulation

2010 ◽  
Vol 26 (1) ◽  
pp. 155-157 ◽  
Author(s):  
Jean-Claude Davin ◽  
Charles Majoie ◽  
Jaap Groothoff ◽  
Valentina Gracchi ◽  
Antonia Bouts ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Large Vessel ◽  
Complement Dysregulation ◽  
Uremic Syndrome
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