atypical hemolytic uremic syndrome


Summary: 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.

Top Publications

  1. Miyata T, Uchida Y, Ohta T, Urayama K, Yoshida Y, Fujimura Y. Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations. Thromb Haemost. 2015;114:862-3 pubmed publisher
  2. Yamada Y, Abe R, Okano Y, Miyakawa Y. Long-term Eculizumab Treatment Contributes to Recovery from End-stage Renal Disease Caused by Atypical Hemolytic Uremic Syndrome. Intern Med. 2017;56:1085-1088 pubmed publisher
    We experienced a favorable outcome in an adult case of atypical hemolytic uremic syndrome (aHUS) after long-term eculizumab treatment...
  3. Miyakawa Y. TTP and aHUS: new insights. Rinsho Ketsueki. 2017;58:530-536 pubmed publisher
    ..Unfortunately, most professionals in the fields of hematology/oncology are unaware of these diseases. Therefore, I will provide an updated overview of TTP and aHUS in this article. ..
  4. Azukaitis K, Simkova E, Majid M, Galiano M, Benz K, Amann K, et al. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ?. J Am Soc Nephrol. 2017;28:3066-3075 pubmed publisher
    ..Furthermore, the benefits of anti-complement therapy are questionable but renal transplant may be a feasible option in the treatment of patients with this condition. ..
  5. Noris M, Remuzzi G. Glomerular Diseases Dependent on Complement Activation, Including Atypical Hemolytic Uremic Syndrome, Membranoproliferative Glomerulonephritis, and C3 Glomerulopathy: Core Curriculum 2015. Am J Kidney Dis. 2015;66:359-75 pubmed publisher
  6. Vaisbich M, Braga A, Gabrielle M, Bueno C, Piazzon F, Kok F. Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls. Pediatr Nephrol. 2017;32:1089-1092 pubmed publisher
    ..The presumed diagnosis was atypical hemolytic uremic syndrome, and the patient was started on eculizumab, but his response was poor, even when the dosage was ..
  7. Fraga Rodriguez G, Brió Sanagustin S, Turón Viñas E, Dixon B, Carreras González E. Eculizumab in a child with atypical haemolytic uraemic syndrome and haemophagocytic lymphohistiocytosis triggered by cytomegalovirus infection. BMJ Case Rep. 2017;2017: pubmed publisher
    ..In conclusion, eculizumab effectively treated aHUS in this case despite a comorbid immunological disease. ..
  8. Azoulay E, Knoebl P, Garnacho Montero J, Rusinová K, Galstian G, Eggimann P, et al. Expert Statements on the Standard of Care in Critically Ill Adult Patients With Atypical Hemolytic Uremic Syndrome. Chest. 2017;152:424-434 pubmed publisher
    ..More data on critically ill patients with aHUS are needed to validate these conclusions within the ICU setting. ..
  9. Foltyn Zadura A, Zipfel P, Bokarewa M, Sturfelt G, Jönsen A, Nilsson S, et al. Factor H autoantibodies and deletion of Complement Factor H-Related protein-1 in rheumatic diseases in comparison to atypical hemolytic uremic syndrome. Arthritis Res Ther. 2012;14:R185 pubmed publisher
    ..Complement activation is involved in rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and atypical hemolytic uremic syndrome (aHUS)...

More Information


  1. Markakis K, Westhoff T, Pagonas N. Aortic Valve Replacement as a Trigger of Atypical Hemolytic Uremic Syndrome. Ann Thorac Surg. 2017;104:e255-e256 pubmed publisher
    ..The most common reason is valvular leakage. This report presents atypical hemolytic uremic syndrome (aHUS) as an alternative cause of mechanical hemolysis after this procedure...
  2. Nilsson P, Thomas A, Bergseth G, Gustavsen A, Volokhina E, van den Heuvel L, et al. Eculizumab-C5 complexes express a C5a neoepitope in vivo: Consequences for interpretation of patient complement analyses. Mol Immunol. 2017;89:111-114 pubmed publisher
    ..These data are important for interpretation of complement analyses in patients treated with eculizumab. ..
  3. Struijk G, Bouts A, Rijkers G, Kuin E, Ten Berge I, Bemelman F. Meningococcal sepsis complicating eculizumab treatment despite prior vaccination. Am J Transplant. 2013;13:819-20 pubmed publisher
  4. Jokiranta T. HUS and atypical HUS. Blood. 2017;129:2847-2856 pubmed publisher
    ..Therefore, understanding the pathogenesis of the different forms of HUS may prove helpful in clinical practice. ..
  5. Ardissino G, Possenti I, Tel F, Testa S, Salardi S, Ladisa V. Discontinuation of eculizumab treatment in atypical hemolytic uremic syndrome: an update. Am J Kidney Dis. 2015;66:172-3 pubmed publisher
  6. Jamme M, Raimbourg Q, Chauveau D, Seguin A, Presne C, Perez P, et al. Predictive features of chronic kidney disease in atypical haemolytic uremic syndrome. PLoS ONE. 2017;12:e0177894 pubmed publisher
    ..This model accurately predicts development of 1-year CKD in patients with aHUS using clinical and biological features available on admission. After further validation, this model may assist in clinical decision making. ..
  7. Kerr H, Wong E, Makou E, Yang Y, Marchbank K, Kavanagh D, et al. Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation. J Biol Chem. 2017;292:13345-13360 pubmed publisher
    ..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)...
  8. Visconti L, Cernaro V, Ardissino G, Sgarbanti M, Ferrara D, Visconti G, et al. [Complement factor B mutation in atypical hemolytic uremic syndrome. Rare cause of rare disease]. G Ital Nefrol. 2017;34:74-81 pubmed
  9. Prescott H, Wu H, Cataland S, Baiocchi R. Eculizumab therapy in an adult with plasma exchange-refractory atypical hemolytic uremic syndrome. Am J Hematol. 2010;85:976-7 pubmed publisher
  10. Chen M, Zhuang J, Yang J, Wang D, Yang Q. Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. Medicine (Baltimore). 2017;96:e8284 pubmed publisher
    ..MMA should be considered in those patients with unclear microangiopathic hemolytic anemia accompany significant megaloblastic degeneration in bone marrow. We should pay attention to the causes and adopt a reasonable treatment strategy. ..
  11. van den Brand J, Verhave J, Adang E, Wetzels J. Cost-effectiveness of eculizumab treatment after kidney transplantation in patients with atypical haemolytic uraemic syndrome. Nephrol Dial Transplant. 2017;32:i115-i122 pubmed publisher
    ..When compared with eculizumab upon recurrence, neither eculizumab induction nor lifelong eculizumab prophylaxis resulted in more QALYs, but did yield far higher costs. Therefore, eculizumab upon recurrence of aHUS is more acceptable. ..
  12. Sharma S, Pradhan M, Meyers K, Le Palma K, Laskin B. Neonatal atypical hemolytic uremic syndrome from a factor H mutation treated with eculizumab. Clin Nephrol. 2015;84:181-5 pubmed publisher
    b>Atypical hemolytic uremic syndrome (aHUS) results from an inherited dysregulation of the alternative complement pathway leading to thrombotic microangiopathy consisting of hemolytic anemia, thrombocytopenia, and renal injury...
  13. Ricklin D, Barratt Due A, Mollnes T. Complement in clinical medicine: Clinical trials, case reports and therapy monitoring. Mol Immunol. 2017;89:10-21 pubmed publisher
    ..However, this progress also requires a new awareness about complement pathophysiology, adequate diagnostic tools and suitable treatment options among clinicians treating patients with such disorders. ..
  14. Kobbe R, Schild R, Christner M, Oh J, Loos S, Kemper M. Case report - atypical hemolytic uremic syndrome triggered by influenza B. BMC Nephrol. 2017;18:96 pubmed publisher
    ..Influenza A infections have been described to cause secondary hemolytic uremic syndrome and to trigger atypical hemolytic uremic syndrome (aHUS) in individuals with an underlying genetic complement dysregulation...
  15. Chaudhary P, Hepgur M, Sarkissian S, Smith R, Weitz I. Atypical haemolytic-uraemic syndrome due to heterozygous mutations of CFH/CFHR1-3 and complement factor H 479. Blood Transfus. 2014;12:111-3 pubmed publisher
  16. Lorthiois E, Anderson K, Vulpetti A, Rogel O, Cumin F, Ostermann N, et al. Discovery of Highly Potent and Selective Small-Molecule Reversible Factor D Inhibitors Demonstrating Alternative Complement Pathway Inhibition in Vivo. J Med Chem. 2017;60:5717-5735 pubmed publisher
    ..predisposes individuals to disorders such as paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS)...