PRO77 Preliminary Characterization of Eculizumab Treatment Patterns, Preceding Disease Triggers and Supportive Therapies in Atypical Hemolytic Uremic Syndrome: A US Claims Database Analysis

2021 ◽  
Vol 24 ◽  
pp. S212
Author(s):  
I. Tomazos ◽  
A. Levy ◽  
C. Faria
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Treatment Patterns ◽  
Database Analysis ◽  
Claims Database ◽  
Preliminary Characterization ◽  
Uremic Syndrome

scholarly journals Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome

2002 ◽  
Vol 71 (6) ◽  
pp. 1285-1295 ◽  
Author(s):  
Pilar Sánchez-Corral ◽  
David Pérez-Caballero ◽  
Olatz Huarte ◽  
Ari M. Simckes ◽  
Elena Goicoechea ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Functional Characterization ◽  
Factor H ◽  
Uremic Syndrome

scholarly journals Atypical hemolytic-uremic syndrome in a patient with adenosine deaminase deficiency

2015 ◽  
Vol 2 (4) ◽  
pp. 195-199 ◽  
Author(s):  
Anne Pham-Huy ◽  
Vy Hong-Diep Kim ◽  
Elizabeth Nizalik ◽  
Gabrielle Weiler ◽  
Jennifer Vethamuthu ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Adenosine Deaminase ◽  
Kidney Biopsy ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Shiga Toxins ◽  
Deficient Patient ◽  
Uremic Syndrome ◽  
Platelet Aggregates ◽  
Increased Susceptibility

Inherited defects in the ubiquitous adenosine deaminase (ADA) enzyme disrupt the function of the immune system as well as many other organs and tissues. Some patients may also suffer from kidney damage. Here we report on an ADA-deficient patient who was treated with ADA replacement therapy from infancy and at 6 years of age developed acute kidney failure, thrombocytopenia, and severe anemia. A kidney biopsy demonstrated mesangiolysis and occlusion of kidney loops by erythrocytes and platelet aggregates, which is consistent with hemolytic-uremic syndrome (HUS). There was no evidence of exposure to Shiga toxins, nor were any complement abnormalities detected. The kidney function improved following hemodialysis. Our report demonstrates the increased susceptibility of ADA-deficient patients to develop HUS and expands the nonimmune abnormalities associated with ADA deficiency. This further emphasizes the vigilance required when caring for such patients. Statement of novelty: Here we provide the first detailed clinical and histological characterization of hemolytic-uremic syndrome developing in an ADA-deficient patient.

Characterization of the patients with atypical hemolytic uremic syndrome by combination of hemolytic assay and gene analysis in Japan

Immunobiology ◽  
2016 ◽  
Vol 221 (10) ◽  
pp. 1175-1176
Author(s):  
Yoko Yoshida ◽  
Hideki Kato ◽  
Madoka Fujisawa ◽  
Yuka Sugawara ◽  
Yumiko Uchida ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Gene Analysis ◽  
Hemolytic Assay ◽  
Uremic Syndrome

scholarly journals Atypical hemolytic uremic syndrome: what is it, how is it diagnosed, and how is it treated?

Hematology ◽  
2012 ◽  
Vol 2012 (1) ◽  
pp. 617-625 ◽  
Author(s):  
Carla M. Nester ◽  
Christie P. Thomas
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Thrombotic Microangiopathy ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complete Characterization ◽  
Clinical Syndrome ◽  
Plasma Therapy ◽  
Alternate Pathway ◽  
Uremic Syndrome ◽  
Time Of Presentation

Abstract Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome of hemolysis, thrombocytopenia, and renal insufficiency. Genetic mutations in the alternate pathway of complement are well recognized as the cause in more than 60% of patients affected by this thrombotic microangiopathy. The identification of aHUS as a disease of the alternate pathway of complement enables directed therapeutic intervention both in the acute and chronic setting and may include one or all of the following: plasma therapy, complement blockade, and liver transplantation. Because aHUS shares many of the presenting characteristics of the other thrombotic microangiopathies, and confirmatory genetic results are not available at the time of presentation, the diagnosis relies heavily on the recognition of a clinical syndrome consistent with the diagnosis in the absence of signs of an alternate cause of thrombotic microangiopathy. Limited understanding of the epidemiology, genetics, and clinical features of aHUS has the potential to delay diagnosis and treatment. To advance our understanding, a more complete characterization of the unique phenotypical features of aHUS is needed. Further studies to identify additional genetic loci for aHUS and more robust biomarkers of both active and quiescent disease are required. Advances in these areas will undoubtedly improve the care of patients with aHUS.

scholarly journals Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome

2015 ◽  
Vol 10 (6) ◽  
pp. 1011-1019 ◽  
Author(s):  
Caterina Mele ◽  
Mathieu Lemaire ◽  
Paraskevas Iatropoulos ◽  
Rossella Piras ◽  
Elena Bresin ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Intronic Mutation ◽  
Uremic Syndrome

Characterization of complement factor H–related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome

Blood ◽  
2009 ◽  
Vol 114 (19) ◽  
pp. 4261-4271 ◽  
Author(s):  
Cynthia Abarrategui-Garrido ◽  
Rubén Martínez-Barricarte ◽  
Margarita López-Trascasa ◽  
Santiago Rodríguez de Córdoba ◽  
Pilar Sánchez-Corral
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Sequence Similarity ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Age Related Macular Degeneration ◽  
Complement Factor H ◽  
Complement Factor ◽  
Age Related ◽  
Uremic Syndrome

Abstract The factor H–related protein family (CFHR) is a group of minor plasma proteins genetically and structurally related to complement factor H (fH). 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). We have developed a proteomics strategy to analyze the CFHR proteins in plasma samples from controls, patients with aHUS, and patients with type II membranoproliferative glomerulonephritis. Here, we report on the identification of persons carrying novel deficiencies of CFHR1, CFHR3, and CFHR1/CFHR4A, resulting from point mutations in CFHR1 and CFHR3 or from a rearrangement involving CFHR1 and CFHR4. Remarkably, patients with aHUS lacking CFHR1, but not those lacking CFHR3, present anti-fH autoantibodies, suggesting that generation of these antibodies is specifically related to CFHR1 deficiency. We also report the characterization of a novel CFHR1 polymorphism, resulting from a gene conversion event between CFH and CFHR1, which strongly associates with aHUS. The risk allotype CFHR1*B, with greater sequence similarity to fH, may compete with fH, decreasing protection of cellular surfaces against complement damage. In summary, our comprehensive analyses of the CFHR proteins have improved our understanding of these proteins and provided further insights into aHUS pathogenesis.

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