Atypical Hemolytic Uremic Syndrome

An hereditary hemolytic uremic syndrome associated with variations in the gene that encodes COMPLEMENT FACTOR H, or the related proteins CFHR1 and CFHR3. Disease often progresses to CHRONIC KIDNEY FAILURE without the prodromal symptoms of ENTEROCOLITIS and DIARRHEA that characterize typical hemolytic uremic syndrome.

Also Known As:

Atypical Hemolytic-Uremic Syndrome; Hemolytic Uremic Syndrome, Atypical; Non-Shiga-Like Toxin-Associated HUS; Non-Stx-Hus; Nonenteropathic HUS; Atypical Hemolytic-Uremic Syndromes; HUS, Non-Shiga-Like Toxin-Associated; HUS, Nonenteropathic; HUSs, Non-Shiga-Like Toxin-Associated; HUSs, Nonenteropathic; Hemolytic-Uremic Syndrome, Atypical; Hemolytic-Uremic Syndromes, Atypical; Non Shiga Like Toxin Associated HUS; Non Stx Hus; Non-Shiga-Like Toxin-Associated HUSs; Nonenteropathic HUSs; Syndrome, Atypical Hemolytic-Uremic; Syndromes, Atypical Hemolytic-Uremic; Toxin-Associated HUS, Non-Shiga-Like; Toxin-Associated HUSs, Non-Shiga-Like

Networked: 1037 relevant articles (73 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombotic Microangiopathies
2.	Thrombotic Thrombocytopenic Purpura
3.	Paroxysmal Hemoglobinuria (Paroxysmal Nocturnal Hemoglobinuria)
4.	Membranoproliferative Glomerulonephritis (Membranoproliferative Glomerulonephritis, Type II)
5.	Macular Degeneration (Age-Related Maculopathy)

Experts

1.	Kavanagh, David: 45 articles (01/2022 - 07/2005)
2.	Noris, Marina: 36 articles (01/2022 - 01/2006)
3.	Frémeaux-Bacchi, Véronique: 35 articles (06/2022 - 02/2005)
4.	Remuzzi, Giuseppe: 31 articles (01/2022 - 01/2006)
5.	Goodship, Timothy H J: 28 articles (01/2018 - 10/2004)
6.	Loirat, Chantal: 27 articles (01/2021 - 03/2003)
7.	Fremeaux-Bacchi, Veronique: 25 articles (01/2019 - 01/2007)
8.	Licht, Christoph: 22 articles (01/2022 - 02/2005)
9.	Roumenina, Lubka T: 21 articles (01/2022 - 09/2009)
10.	Sánchez-Corral, Pilar: 21 articles (01/2021 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Atypical Hemolytic Uremic Syndrome:

1.	eculizumab FDA Link 01/01/2014 - "Eculizumab is highly effective in controlling complement activation in patients with the atypical hemolytic uremic syndrome (aHUS). " 03/01/2017 - "In this study, we present a case of a patient with atypical hemolytic-uremic syndrome treated successfully with eculizumab. " 01/01/2020 - "With the introduction of eculizumab, a C5-inhibitor, morbidity and mortality improved significantly for patients with atypical hemolytic uremic syndrome (aHUS). " 02/01/2017 - "Improved renal recovery in patients with atypical hemolytic uremic syndrome following rapid initiation of eculizumab treatment." 01/01/2017 - "Our case suggests that treatment of atypical hemolytic uremic syndrome in early trimester of pregnancy with eculizumab results in good outcome to mother and fetus."
2.	Complement System Proteins (Complement)IBA 01/01/2019 - "Prospective studies should be performed to evaluate the efficacy of complement blockers in patients with secondary atypical hemolytic uremic syndrome who do not respond to the treatment of the triggering condition." 11/01/2020 - "Our study highlights the complexities of complement-mediated diseases like atypical hemolytic uremic syndrome and illustrates the importance of functional studies at the variant level to gain insight into the disease phenotype." 01/01/2020 - "Molecular Studies and an ex vivo Complement Assay on Endothelium Highlight the Genetic Complexity of Atypical Hemolytic Uremic Syndrome: The Case of a Pedigree With a Null CD46 Variant." 11/01/2023 - "C5 blockade has revolutionized post-transplant management of atypical hemolytic uremic syndrome, a paradigm of complement-driven disease. " 10/19/2023 - "Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study."
3.	Complement Inactivating AgentsIBA 12/01/2017 - "The development of complement inhibitors has greatly improved the outcome of patients with atypical hemolytic uremic syndrome (aHUS), making kidney transplantation a more feasible option. " 11/01/2023 - "The other was a new mother who was diagnosed with atypical hemolytic uremic syndrome and was awaiting recovery from her acute kidney injury after receiving complement inhibitor therapy. " 01/01/2018 - "The terminal complement-inhibitor eculizumab has dramatically changed the management of patients with atypical hemolytic uremic syndrome (aHUS), and has also shown promise for treating certain forms of secondary HUS (sHUS), including that caused by drugs and solid-organ/hematopoietic stem cell transplant. " 01/01/2017 - "The complement inhibitor eculizumab has dramatically improved the outcome of atypical hemolytic uremic syndrome. " 01/01/2016 - "The identification of alternative complement pathway abnormalities in atypical hemolytic uremic syndrome (aHUS), along with the proven efficacy of terminal complement inhibitors in treatment, has increased the need for rapid differentiation of TTP from aHUS. "
4.	ravulizumabIBA 01/01/2020 - "Thus, treatment with ravulizumab once every eight weeks resulted in rapidly improved hematologic and renal endpoints with no unexpected adverse events in adults with atypical hemolytic uremic syndrome." 10/01/2021 - "Real-world data of six patients with atypical hemolytic uremic syndrome switched to ravulizumab." 02/02/2021 - "Correction to: Efficacy and safety of the long-acting C5 inhibitor ravulizumab in patients with atypical hemolytic uremic syndrome triggered by pregnancy: a subgroup analysis." 01/01/2021 - "Efficacy and safety of the long-acting C5 inhibitor ravulizumab in patients with atypical hemolytic uremic syndrome triggered by pregnancy: a subgroup analysis." 01/01/2020 - "Is ravulizumab the new treatment of choice for atypical hemolytic uremic syndrome (aHUS)?"
5.	thiamine triphosphorate (TTP)IBA 10/01/2020 - "Twenty-four paired test samples derived from 10 consecutively recruited patients (n = 8, acquired TTP; n = 1, atypical hemolytic uremic syndrome; n = 1, control), of which nine test samples were collected in case of clinically apparent TTP and 13 samples were collected from TTP patients in clinical remission were included. " 06/01/2018 - "Most cases had secondary etiologies (42.5%), followed by acquired TTP (16.6%), atypical hemolytic uremic syndrome (HUS) or HUS (12.8%) and congenital TTP (6.4%). " 09/05/2014 - "Atypical Hemolytic Uremic Syndrome: Differential Diagnosis from TTP/HUS and Management." 02/01/2016 - "The aim of this study was to investigate the pathogenetic mechanisms underlying an acute case of TMA with features of both thrombotic thrombocytopenic purpura (TTP) and atypical hemolytic uremic syndrome (aHUS). " 09/21/2023 - "We present our experience with seven patients with antibody mediated atypical hemolytic uremic syndrome (aHUS) and thrombotic thrombocytopenic purpura (TTP). "
6.	Monoclonal AntibodiesIBA 03/01/2016 - "Successful treatment of neonatal atypical hemolytic uremic syndrome with C5 monoclonal antibody." 06/01/2023 - "Eculizumab is a monoclonal antibody for the treatment of atypical hemolytic uremic syndrome (aHUS). " 03/01/2023 - "The long-acting C5 monoclonal antibody ravulizumab is now approved for atypical hemolytic uremic syndrome treatment, enabling a reduction in the dosing frequency and improving the quality of life in patients with atypical hemolytic uremic syndrome. " 01/01/2017 - "The treatment of choice for Atypical Hemolytic Uremic Syndrome (aHUS) is the monoclonal antibody eculizumab. " 01/01/2017 - "ADAMTS13 activity was later found to be within normal limit, hence diagnosis of atypical hemolytic uremic syndrome was strongly considered at that time and she was immediately treated with anti-C5 humanized monoclonal antibody (eculizumab). "
7.	Complement Factor H (Factor H)IBA 08/01/2022 - "Correction: Antibody recognition of complement factor H reveals a flexible loop involved in atypical hemolytic uremic syndrome pathogenesis." 06/01/2022 - "In addition, the patient was found to be heterozygous for the complement factor H (CFH) H3 haplotype (involving the rare alleles of c.-331C>T, Q672Q and E936D polymorphisms) reported as a risk factor of atypical hemolytic uremic syndrome. " 01/01/2022 - "Anti-factor H antibody and its role in atypical hemolytic uremic syndrome." 01/01/2022 - "Antibody recognition of complement factor H reveals a flexible loop involved in atypical hemolytic uremic syndrome pathogenesis." 10/26/2021 - "Anti-Factor H Antibody-Associated Atypical Hemolytic Uremic Syndrome: A Case Report."
8.	Complement C5 (Complement 5)IBA 01/01/2011 - "Targeting complement C5 in atypical hemolytic uremic syndrome." 01/01/2011 - "The development of atypical hemolytic uremic syndrome depends on complement C5." 06/01/2021 - "Long-Term Efficacy and Safety of the Long-Acting Complement C5 Inhibitor Ravulizumab for the Treatment of Atypical Hemolytic Uremic Syndrome in Adults." 01/01/2017 - "Treatment of atypical hemolytic uremic syndrome (aHUS) by the complement C5 inhibitor eculizumab (Soliris®) is highly effective but unfortunately, associated with an economic pressure on the health care systems even in high incomes countries. " 10/01/2015 - "Complement C5 inhibitor eculizumab treatment in atypical hemolytic uremic syndrome is effective, but associated with high costs. "
9.	AutoantibodiesIBA 01/01/2019 - "Immunological features and functional analysis of anti-CFH autoantibodies in patients with atypical hemolytic uremic syndrome." 03/01/2012 - "These findings reinforce the concept of multiple concurrent risk factors being associated with atypical hemolytic uremic syndrome but question whether autoantibodies per se predispose to atypical hemolytic uremic syndrome." 11/05/2009 - "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). " 10/01/2012 - "FH inactivation by mutations or by autoantibodies is associated with a thrombotic microangiopathy disease, atypical hemolytic uremic syndrome. " 06/11/2013 - "Mutations and single-nucleotide polymorphisms in the FH gene and autoantibodies against FH predispose individuals to diseases, including age-related macular degeneration, dense-deposit disease, and atypical hemolytic uremic syndrome. "
10.	Fibrinogen (Factor I)FDA Link 07/01/2019 - "A Multimodality Approach to Assessing Factor I Genetic Variants in Atypical Hemolytic Uremic Syndrome." 02/01/2009 - "Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient." 06/01/2009 - "Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP." 11/01/2017 - "To address this, we expressed human CFH mutants in Pichia pastoris We found that recombinant I62-CFH (protective against age-related macular degeneration) and V62-CFH functioned equivalently, matching or outperforming plasma-derived CFH, whereas R53H-CFH, linked to atypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and factor I cofactor activity (CA). " 03/01/2012 - "This study screened 175 atypical hemolytic uremic syndrome patients for factor I autoantibodies using ELISA with confirmatory Western blotting. "

Therapies and Procedures

1.	Therapeutics 01/01/2018 - "While FH is measured to diagnose and monitor therapy of patients with atypical hemolytic uremic syndrome, recent studies also implicated increased plasma levels of FHRs in disease. " 03/01/2023 - "Plasma therapy has been used for atypical hemolytic uremic syndrome treatment with inconsistent results. " 01/01/2021 - "Could plasma based therapies still be considered in selected cases with atypical hemolytic uremic syndrome?" 01/01/2021 - "Atypical hemolytic uremic syndrome (aHUS) represents a rare but severe adverse effect (AE) that could occur even after many years from the beginning of IFNβ therapy. " 01/01/2020 - "Preemptive plasma therapy prevents atypical hemolytic uremic syndrome relapse in kidney transplant recipients."
2.	Plasma Exchange 10/01/2019 - "Membrane-filtration based plasma exchanges for atypical hemolytic uremic syndrome: Audit of efficacy and safety." 04/01/2018 - "Mutations in the CD46 gene account for an important proportion of patients with atypical hemolytic uremic syndrome (aHUS) who characteristically show multiple relapses, no response to plasma exchange and low recurrence risk in allograft. " 01/01/2017 - "Successful Treatment of Atypical Hemolytic Uremic Syndrome With Therapeutic Plasma Exchange in a 3.8-kg Neonate." 01/01/2013 - "Overcoming technical challenges when treating atypical hemolytic uremic syndrome with therapeutic plasma exchange." 10/01/2011 - "Long-term renal function under plasma exchange in atypical hemolytic uremic syndrome."
3.	Kidney Transplantation 01/01/2006 - "This study confirmed that the overall outcome of kidney transplantation in patients with non-Stx-HUS is poor, with disease recurring in 60% of patients, 91.6% of whom developed graft failure. " 01/01/2022 - "Case report: Novel FHR2 variants in atypical Hemolytic Uremic Syndrome: A case study of a translational medicine approach in renal transplantation." 12/01/2021 - "Patients with atypical hemolytic uremic syndrome (aHUS) have long been considered ineligible for kidney transplantation (KTx) in several centers due to the high risk of disease recurrence, graft loss and life-threatening complications. " 01/01/2020 - "Peri- and Post-operative Evaluation and Management of Atypical Hemolytic Uremic Syndrome (aHUS) in Kidney Transplantation." 01/01/2020 - "Atypical hemolytic uremic syndrome (aHUS) after kidney transplantation is rare and carries a grave outcome. "
4.	Duration of Therapy 04/01/2020 - "Defining treatment duration in atypical hemolytic uremic syndrome in adults: a clinical and pathological approach." 01/01/2023 - "Eculizumab has proven to be effective in patients with atypical hemolytic uremic syndrome (aHUS) in clinical trials and in the real world, but the optimal duration of therapy remains unknown. " 01/01/2019 - "Optimal duration of treatment with eculizumab in atypical hemolytic uremic syndrome (aHUS)-a question to be addressed in a scientific way." 01/01/2022 - "This study compared the aggregate duration of treatment administration of approved eculizumab and ravulizumab treatment regimens and resultant productivity implications for patients with atypical hemolytic uremic syndrome (aHUS) and their caregivers. " 05/01/2022 - "Eculizumab is an effective treatment for complement-mediated atypical hemolytic uremic syndrome, but much is still to be learned about optimal treatment duration and if eculizumab can be discontinued without thrombotic microangiopathy reoccurrence. "
5.	Plasmapheresis 06/23/2019 - "A different entity known as atypical hemolytic uremic syndrome has garnered more clinical recognition because reported cases have described that it does not respond to standard plasmapheresis. " 01/01/2001 - "Plasmapheresis in a very young infant with atypical hemolytic uremic syndrome." 03/01/1991 - "The successful treatment of atypical hemolytic uremic syndrome with plasmapheresis." 07/01/2022 - "Efficacy of cascade plasmapheresis in comparison with conventional therapeutic plasma exchange for relapsed atypical hemolytic uremic syndrome: A case report." 01/01/2022 - "As thrombotic microangiopathies require urgent treatment, plasmapheresis should be started as soon as they are suspected, followed by Eculisumab after the confirmation of the diagnosis of atypical hemolytic uremic syndrome. "