"Atypical hemolytic uremic syndrome" from_date:2012

Ravulizumab (Ultomiris) - Atypical hemolytic uremic syndrome Return to Article DetailsRavulizumab (Ultomiris)

Ravulizumab (Ultomiris) - Atypical hemolytic uremic syndrome Return to Article DetailsRavulizumab (Ultomiris)

The membrane attack complex drives thrombotic microangiopathy in complement mediated atypical hemolytic uremic syndrome. Introduction of complement (C) inhibition into clinical practice has revolutionized the treatment of patients with complement-mediated atypical hemolytic syndrome (aHUS). Our C3 mouse model, engineered around a gain of function point mutation in C3, is associated

Ten tips for managing complement-mediated thrombotic microangiopathies (formerly atypical hemolytic uremic syndrome): narrative review. Complement-mediated thrombotic microangiopathies (CM-TMA) are rare and life-threatening disorders characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage. These conditions result from dysregulation of the alternative complement

Anti-C5 monoclonal antibody treatment showing pathological resolution of complement-mediated atypical hemolytic uremic syndrome: a case report. No reports have shown histological changes before and after anti-C5 monoclonal antibody treatment in patients with atypical hemolytic uremic syndrome (aHUS). Here, we report a rare case of complement-mediated aHUS with a complement factor H (CFH

A Case-Based Narrative Review of Pregnancy-Associated Atypical Hemolytic Uremic Syndrome/Complement-Mediated Thrombotic Microangiopathy. Atypical hemolytic uremic syndrome (aHUS) is a complement-mediated thrombotic microangiopathy (TMA), caused by uncontrolled activation of the alternative complement pathway in the setting of autoantibodies to or rare pathogenic genetic variants in complement

An expert discussion on the atypical hemolytic uremic syndrome nomenclature-identifying a road map to precision: a report of a National Kidney Foundation Working Group. The term atypical hemolytic uremic syndrome has been in use since the mid-1970s. It was initially used to describe the familial or sporadic form of hemolytic uremic syndrome as opposed to the epidemic, typical form of the disease . Over time, the atypical hemolytic uremic syndrome term has evolved into being used to refer to anything that is not Shiga toxin-associated hemolytic uremic syndrome. The term describes a heterogeneous group of diseases of disparate causes, a circumstance that makes defining disease-specific natural history and/or targeted treatment approaches challenging. A working group of specialty-specific experts

Treatment discontinuation in adults with atypical hemolytic uremic syndrome (aHUS): a qualitative study of international experts' perspectives with associated cost-consequence analysis. Atypical hemolytic uremic syndrome (aHUS) is a rare, life-threatening thrombotic microangiopathy (TMA) related to congenital mutations impeding control of the alternative pathway of complement. Following approval

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome. Atypical hemolytic uremic syndrome (aHUS) is a rare cause of end-stage kidney disease and associated with poor outcomes after kidney transplantation from early disease recurrence. Prophylactic eculizumab treatment at the time of transplantation is used in selected patients with aHUS. We

Atypical Hemolytic Uremic Syndrome Occurring After Receipt of mRNA-1273 COVID-19 Vaccine Booster: A Case Report. Atypical hemolytic uremic syndrome (aHUS) is a subtype of thrombotic microangiopathy (TMA) characterized by a dysregulation of the alternative complement pathway. Here, we report a previously healthy 38-year-old woman in whom aHUS developed after a COVID-19 vaccine booster. One day

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome. Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a common cause of acute kidney injury in children. It is characterized by progressive acute kidney failure due to severe thrombotic microangiopathy, associated with nonimmune, Coombs-negative hemolytic anemia and thrombocytopenia. HUS is caused mostly

Mutations in Atypical Hemolytic Uremic Syndrome Provide Evidence for the Role of Calcium in Complement Factor I. Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy. Genetic variants in complement proteins are found in ~60% of patients. Of these, ~15% carry mutations in complement Factor I. Factor I (FI) is a multi-domain serine protease that cleaves and thereby

Purtscher-Like Retinopathy Associated With Atypical Hemolytic Uremic Syndrome. This case report discusses a diagnosis of atypical hemolytic uremic syndrome in a woman aged 38 years who presented with progressively blurry vision in both eyes over a period of 10 days.

How I diagnose and treat atypical hemolytic uremic syndrome. Our understanding and management of atypical hemolytic uremic syndrome (aHUS) have dramatically improved in the last decade. aHUS has been established as a prototypic disease resulting from a dysregulation of the complement alternative C3 convertase. Subsequently, prospective nonrandomized studies and retrospective series have shown

Proteinuria and Exposure to Eculizumab in Atypical Hemolytic Uremic Syndrome.

[Observation of a case of atypical hemolytic uremic syndrome treated with eculizumab]. 患儿 女，7月龄，因“面色苍白2 d，茶色尿1 d”于2020年11月就诊于首都儿科研究所附属儿童医院肾脏内科，经过血液及全外显子基因检测，诊断非典型溶血尿毒综合征（aHUS），入院给予10 d新鲜冰冻血浆无反应，予依库珠单抗治疗1周后溶血缓解，肾功能正常，3个月尿蛋白转阴，连续应用6个月（共9剂），溶血持续缓解，尿蛋白及肾功能持续正常，拟延长给药间歇为3个月（即停药3个月）时出现aHUS复发，重新启动依库珠单抗治疗仍有效。CFH基因变异所致的aHUS，血浆治疗可不敏感，建议有条件尽早给予依库珠单抗治疗，有望是控制溶血和恢复肾功能的有效方法。.

Proliferative retinopathy and retinal detachment in pediatric atypical hemolytic uremic syndrome. We report the case of a 14-year-old boy with history of microangiopathic hemolytic crises secondary to atypical hemolytic uremic syndrome presenting with new-onset decreased vision, flashes, and floaters in his left eye. The patient had a history of chronic retinal detachment in the right eye of proliferative retinopathy and tractional and rhegmatogenous retinal detachments in a pediatric patient with atypical hemolytic uremic syndrome.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia , and cognitive retardation of variable severity. Remarkably, unlike patients with previously described mutations in the components of the TSEN complex, all the individuals that we report developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life

Eculizumab in nocturnal paroxysmal hemoglobinuria and atypical hemolytic-uremic syndrome Eculizumab in nocturnal paroxysmal hemoglobinuria and atypical hemolytic-uremic syndrome ..

Molecular bases for the association of FHR-1 with atypical hemolytic uremic syndrome and other diseases. Factor H (FH)-related proteins are a group of partly characterized complement proteins thought to promote complement activation by competing with FH in binding to surface-bound C3b. Among them, FH-related protein 1 (FHR-1) is remarkable because of its association with atypical hemolytic uremic syndrome (aHUS) and other important diseases. Using a combination of biochemical, immunological, nuclear magnetic resonance, and computational approaches, we characterized a series of FHR-1 mutants (including 2 associated with aHUS) and unraveled the molecular bases of the so-called deregulation activity of FHR-1. In contrast with FH, FHR-1 lacks the capacity to bind sialic acids, which prevents C3b