{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T14:57:10Z","timestamp":1793717830491,"version":"4.6.1"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.2215\/cjn.02210310","type":"journal-article","created":{"date-parts":[[2010,7,1]],"date-time":"2010-07-01T23:16:15Z","timestamp":1278026175000},"page":"1844-1859","source":"Crossref","is-referenced-by-count":893,"title":["Relative Role of Genetic Complement Abnormalities in Sporadic and Familial aHUS and Their Impact on Clinical Phenotype"],"prefix":"10.2215","volume":"5","author":[{"given":"Marina","family":"Noris","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Caprioli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Bresin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Mossali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Pianetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Gamba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Daina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Fenili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Castelletti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Sorosina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Piras","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Donadelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramona","family":"Maranta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"van der Meer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward M.","family":"Conway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter F.","family":"Zipfel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy H.","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Remuzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20-20230601","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1046\/j.1523-1755.2001.060003831.x","article-title":"Thrombotic microangiopathy, hemolytic uremic syndrome, and thrombotic thrombocytopenic purpura","volume":"60","author":"Ruggenenti","year":"2001","journal-title":"Kidney Int"},{"key":"R2-20-20230601","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/sj.ki.5001581","article-title":"A classification of hemolytic uremic syndrome and thrombotic thrombocytopenic purpura and related disorders","volume":"70","author":"Besbas","year":"2006","journal-title":"Kidney Int"},{"key":"R3-20-20230601","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1007\/s00467-008-0935-6","article-title":"Treatment and outcome of Shiga-toxin-associated hemolytic uremic syndrome (HUS)","volume":"23","author":"Scheiring","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"R4-20-20230601","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1056\/NEJMra0902814","article-title":"Atypical hemolytic-uremic syndrome","volume":"361","author":"Noris","year":"2009","journal-title":"N Engl J Med"},{"key":"R5-20-20230601","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/MNH.0b013e3282f0872f","article-title":"Update on evaluating complement in hemolytic uremic syndrome","volume":"16","author":"Kavanagh","year":"2007","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"R6-20-20230601","doi-asserted-by":"crossref","first-page":"976","DOI":"10.1053\/j.ajkd.2004.02.010","article-title":"Non-enteropathic hemolytic uremic syndrome: Causes and short-term course","volume":"43","author":"Constantinescu","year":"2004","journal-title":"Am J Kidney Dis"},{"key":"R7-20-20230601","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1073\/pnas.0603420103","article-title":"Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome","volume":"104","author":"Goicoechea de Jorge","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"R8-20-20230601","doi-asserted-by":"crossref","first-page":"4948","DOI":"10.1182\/blood-2008-01-133702","article-title":"Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome","volume":"112","author":"Fremeaux-Bacchi","year":"2008","journal-title":"Blood"},{"key":"R9-20-20230601","doi-asserted-by":"crossref","first-page":"2837","DOI":"10.1182\/blood-2009-01-197640","article-title":"Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome","volume":"114","author":"Roumenina","year":"2009","journal-title":"Blood"},{"key":"R10-20-20230601","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1056\/NEJMoa0810739","article-title":"Mutations in thrombomodulin in hemolytic-uremic syndrome","volume":"361","author":"Delvaeye","year":"2009","journal-title":"N Engl J Med"},{"key":"R11-20-20230601","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1681\/ASN.2004050380","article-title":"Anti-factor H autoantibodies associated with atypical hemolytic uremic syndrome","volume":"16","author":"Dragon-Durey","year":"2005","journal-title":"J Am Soc Nephrol"},{"key":"R12-20-20230601","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1182\/blood-2007-09-109876","article-title":"Factor H autoantibodies in atypical hemolytic uremic syndrome correlate with CFHR1\/CFHR3 deficiency","volume":"111","author":"Jozsi","year":"2008","journal-title":"Blood"},{"key":"R13-20-20230601","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1182\/blood-2009-05-221549","article-title":"Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4 and with mutations in CFH, CFI, CD46, and C3 in patients with atypical haemolytic uraemic syndrome","volume":"115","author":"Moore","year":"2009","journal-title":"Blood"},{"key":"R14-20-20230601","doi-asserted-by":"crossref","first-page":"4261","DOI":"10.1182\/blood-2009-05-223834","article-title":"Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome","volume":"114","author":"Abarrategui-Garrido","year":"2009","journal-title":"Blood"},{"key":"R15-20-20230601","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1182\/blood-2005-10-007252","article-title":"Genetics of HUS: The impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome","volume":"108","author":"Caprioli","year":"2006","journal-title":"Blood"},{"key":"R16-20-20230601","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1681\/ASN.2006080811","article-title":"Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome","volume":"18","author":"Sellier-Leclerc","year":"2007","journal-title":"J Am Soc Nephrol"},{"key":"R17-20-20230601","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1038\/ki.2009.472","article-title":"Mutations in components of complement influence the outcome of factor I-associated atypical hemolytic uremic syndrome","volume":"77","author":"Bienaime","year":"2010","journal-title":"Kidney Int"},{"key":"R18-20-20230601","doi-asserted-by":"crossref","first-page":"1694","DOI":"10.1111\/j.1600-6143.2008.02297.x","article-title":"Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation","volume":"8","author":"Le Quintrec","year":"2008","journal-title":"Am J Transplant"},{"key":"R19-20-20230601","doi-asserted-by":"crossref","first-page":"e431","DOI":"10.1371\/journal.pmed.0030431","article-title":"Atypical haemolytic uraemic syndrome associated with a hybrid complement gene","volume":"3","author":"Venables","year":"2006","journal-title":"PLoS Med"},{"key":"R20-20-20230601","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1160\/TH08-05-0322","article-title":"Autoantibodies in haemolytic uraemic syndrome (HUS)","volume":"101","author":"Skerka","year":"2009","journal-title":"Thromb Haemost"},{"key":"R21-20-20230601","doi-asserted-by":"crossref","first-page":"3385","DOI":"10.1093\/hmg\/ddg363","article-title":"Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease","volume":"12","author":"Caprioli","year":"2003","journal-title":"Hum Mol Genet"},{"key":"R22-20-20230601","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1111\/j.1600-6143.2005.00783.x","article-title":"Hemolytic uremic syndrome: A fatal outcome after kidney and liver transplantation performed to correct factor h gene mutation","volume":"5","author":"Remuzzi","year":"2005","journal-title":"Am J Transplant"},{"key":"R23-20-20230601","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1681\/ASN.2008080906","article-title":"Liver-kidney transplantation to cure atypical hemolytic uremic syndrome","volume":"20","author":"Saland","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R24-20-20230601","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1016\/S0140-6736(02)08560-4","article-title":"Combined kidney and liver transplantation for familial haemolytic uraemic syndrome","volume":"359","author":"Remuzzi","year":"2002","journal-title":"Lancet"},{"key":"R25-20-20230601","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1136\/jmg.2008.064766","article-title":"The high frequency of complement factor H-related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome","volume":"46","author":"Dragon-Durey","year":"2009","journal-title":"J Med Genet"},{"key":"R26-20-20230601","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.2215\/CJN.06281208","article-title":"A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure","volume":"4","author":"Lhotta","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"key":"R27-20-20230601","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1007\/s00467-008-0872-4","article-title":"Complement and the atypical hemolytic uremic syndrome in children","volume":"23","author":"Loirat","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"R28-20-20230601","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.molimm.2005.06.017","article-title":"The complement system in the pathophysiology of pregnancy","volume":"43","author":"Girardi","year":"2006","journal-title":"Mol Immunol"},{"key":"R29-20-20230601","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1097\/TP.0b013e3181683cf5","article-title":"Complement and renal transplantation: From donor to recipient","volume":"85","author":"Damman","year":"2008","journal-title":"Transplantation"},{"key":"R30-20-20230601","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1160\/TH08-09-0575","article-title":"Hereditary and acquired complement dysregulation in membranoproliferative glomerulonephritis","volume":"101","author":"Licht","year":"2009","journal-title":"Thromb Haemost"},{"key":"R31-20-20230601","doi-asserted-by":"crossref","first-page":"845","DOI":"10.3109\/08860229809045182","article-title":"Secondary membranoproliferative glomerulonephritis due to hemolytic uremic syndrome: An unusual presentation","volume":"20","author":"Jha","year":"1998","journal-title":"Ren Fail"},{"key":"R32-20-20230601","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1681\/ASN.2005080868","article-title":"Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions","volume":"17","author":"Jozsi","year":"2006","journal-title":"J Am Soc Nephrol"},{"key":"R33-20-20230601","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1161\/01.ATV.9.6.802","article-title":"Complement receptors and regulatory proteins in human atherosclerotic lesions","volume":"9","author":"Seifert","year":"1989","journal-title":"Arteriosclerosis"},{"key":"R34-20-20230601","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s00467-008-0964-1","article-title":"Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome","volume":"24","author":"Ariceta","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"R35-20-20230601","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1007\/s00467-009-1188-8","article-title":"Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome","volume":"24","author":"Davin","year":"2009","journal-title":"Pediatr Nephrol"},{"key":"R36-20-20230601","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1007\/s00467-008-0833-y","article-title":"Plasma therapy in atypical haemolytic uremic syndrome: Lessons from a family with a factor H mutation","volume":"23","author":"Davin","year":"2008","journal-title":"Pediatr Nephrol"},{"key":"R37-20-20230601","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.4049\/jimmunol.182.2.1061","article-title":"Polyanion-induced self-association of complement factor H","volume":"182","author":"Pangburn","year":"2009","journal-title":"J Immunol"},{"key":"R38-20-20230601","doi-asserted-by":"crossref","first-page":"88","DOI":"10.2215\/CJN.00050505","article-title":"HUS\/TTP ftIRoRaF: Outcome of renal transplantation in patients with non-Shiga toxin-associated haemolytic uremic syndrome: Prognostic significance of genetic background","volume":"1","author":"Bresin","year":"2006","journal-title":"Clin J Am Soc Nephrol"},{"key":"R39-20-20230601","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.1111\/j.1600-6143.2006.01375.x","article-title":"Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation","volume":"6","author":"Saland","year":"2006","journal-title":"Am J Transplant"},{"key":"R40-20-20230601","doi-asserted-by":"crossref","first-page":"201","DOI":"10.2215\/CJN.02170508","article-title":"Successful split liver-kidney transplant for factor H associated hemolytic uremic syndrome","volume":"4","author":"Saland","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"key":"R41-20-20230601","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1681\/ASN.2008060593","article-title":"Soluble thrombomodulin protects ischemic kidneys","volume":"20","author":"Sharfuddin","year":"2009","journal-title":"J Am Soc Nephrol"},{"key":"R42-20-20230601","doi-asserted-by":"crossref","first-page":"e12","DOI":"10.1053\/j.ajkd.2004.09.012","article-title":"Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: Successful treatment with intensive plasma exchanges and ganciclovir","volume":"45","author":"Olie","year":"2005","journal-title":"Am J Kidney Dis"},{"key":"R43-20-20230601","doi-asserted-by":"crossref","first-page":"3548","DOI":"10.1093\/ndt\/gfp377","article-title":"Haemolytic uraemic syndrome caused by factor H mutation: Is single kidney transplantation under intensive plasmatherapy an option?","volume":"24","author":"Hirt-Minkowski","year":"2009","journal-title":"Nephrol Dial Transplant"},{"key":"R44-20-20230601","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1056\/NEJMc0808527","article-title":"Eculizumab for atypical hemolytic-uremic syndrome","volume":"360","author":"Nurnberger","year":"2009","journal-title":"N Engl J Med"},{"key":"R45-20-20230601","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1056\/NEJMc0809959","article-title":"Eculizumab for congenital atypical hemolytic-uremic syndrome","volume":"360","author":"Gruppo","year":"2009","journal-title":"N Engl J Med"},{"key":"R46-20-20230601","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.2215\/CJN.01090209","article-title":"Complement inhibitor eculizumab in atypical hemolytic uremic syndrome","volume":"4","author":"Mache","year":"2009","journal-title":"Clin J Am Soc Nephrol"},{"key":"R47-20-20230601","doi-asserted-by":"crossref","first-page":"2644","DOI":"10.1111\/j.1600-6143.2009.02817.x","article-title":"Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome","volume":"9","author":"Chatelet","year":"2009","journal-title":"Am J Transplant"},{"key":"R48-20-20230601","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1053\/j.ajkd.2009.08.011","article-title":"Maintenance of kidney function following treatment with eculizumab and discontinuation of plasma exchange after a third kidney transplant for atypical hemolytic uremic syndrome associated with a CFH mutation","volume":"55","author":"Davin","year":"2010","journal-title":"Am J Kidney Dis"}],"container-title":["Clinical Journal of the American Society of Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/01277230-201010000-00020","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,10]],"date-time":"2026-08-10T13:39:55Z","timestamp":1786369195000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/01277230-201010000-00020"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10]]},"references-count":48,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.2215\/cjn.02210310","relation":{},"ISSN":["1555-9041"],"issn-type":[{"value":"1555-9041","type":"print"}],"subject":[],"published":{"date-parts":[[2010,10]]}}}