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Atypical hemolytic uremic syndrome with complement gene abnormality

MedGen UID:
993527
Concept ID:
CN312521
Disease or Syndrome
Synonyms: aHUS with complement gene abnormality; atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality
 
Monarch Initiative: MONDO:0035290
Orphanet: ORPHA544472

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtypical hemolytic uremic syndrome with complement gene abnormality

Professional guidelines

PubMed

Gastoldi S, Aiello S, Galbusera M, Breno M, Alberti M, Bresin E, Mele C, Piras R, Liguori L, Santarsiero D, Benigni A, Remuzzi G, Noris M
Front Immunol 2023;14:1112257. Epub 2023 Feb 9 doi: 10.3389/fimmu.2023.1112257. PMID: 36845135Free PMC Article
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946
Fakhouri F, de Jorge EG, Brune F, Azam P, Cook HT, Pickering MC
Kidney Int 2010 Aug;78(3):279-86. Epub 2010 May 5 doi: 10.1038/ki.2010.132. PMID: 20445496Free PMC Article

Recent clinical studies

Etiology

Piras R, Valoti E, Alberti M, Bresin E, Mele C, Breno M, Liguori L, Donadelli R, Rigoldi M, Benigni A, Remuzzi G, Noris M
Front Immunol 2022;13:1011580. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1011580. PMID: 36793547Free PMC Article
Noris M, Remuzzi G
Curr Opin Nephrol Hypertens 2013 Nov;22(6):704-12. doi: 10.1097/MNH.0b013e328365b3fe. PMID: 24076560
Loirat C, Frémeaux-Bacchi V
Orphanet J Rare Dis 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60. PMID: 21902819Free PMC Article
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article
Saland JM, Ruggenenti P, Remuzzi G; Consensus Study Group
J Am Soc Nephrol 2009 May;20(5):940-9. Epub 2008 Dec 17 doi: 10.1681/ASN.2008080906. PMID: 19092117

Diagnosis

Lemaire M, Noone D, Lapeyraque AL, Licht C, Frémeaux-Bacchi V
Clin J Am Soc Nephrol 2021 Jun;16(6):942-956. Epub 2021 Feb 3 doi: 10.2215/CJN.11830720. PMID: 33536243Free PMC Article
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946
Angioi A, Fervenza FC, Sethi S, Zhang Y, Smith RJ, Murray D, Van Praet J, Pani A, De Vriese AS
Kidney Int 2016 Feb;89(2):278-88. doi: 10.1016/j.kint.2015.12.003. PMID: 26806831
Loirat C, Frémeaux-Bacchi V
Orphanet J Rare Dis 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60. PMID: 21902819Free PMC Article
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372

Therapy

Balwani MR, Pasari AS, Gurjar P, Bhawane A, Bawankule C, Tolani P, Kashiv P, Dubey S, Katekhaye VM
Transplant Proc 2023 Jun;55(5):1312-1315. Epub 2023 May 16 doi: 10.1016/j.transproceed.2023.02.066. PMID: 37202305
Garg N, Rennke HG, Pavlakis M, Zandi-Nejad K
Transplant Rev (Orlando) 2018 Jan;32(1):58-68. Epub 2017 Nov 4 doi: 10.1016/j.trre.2017.10.001. PMID: 29157988
Huerta A, Arjona E, Portoles J, Lopez-Sanchez P, Rabasco C, Espinosa M, Cavero T, Blasco M, Cao M, Manrique J, Cabello-Chavez V, Suñer M, Heras M, Fulladosa X, Belmar L, Sempere A, Peralta C, Castillo L, Arnau A, Praga M, Rodriguez de Cordoba S
Kidney Int 2018 Feb;93(2):450-459. Epub 2017 Sep 12 doi: 10.1016/j.kint.2017.06.022. PMID: 28911789
Verhave JC, Wetzels JF, van de Kar NC
Nephrol Dial Transplant 2014 Sep;29 Suppl 4:iv131-41. doi: 10.1093/ndt/gfu235. PMID: 25165180
Noris M, Remuzzi G
Curr Opin Nephrol Hypertens 2013 Nov;22(6):704-12. doi: 10.1097/MNH.0b013e328365b3fe. PMID: 24076560

Prognosis

Piras R, Valoti E, Alberti M, Bresin E, Mele C, Breno M, Liguori L, Donadelli R, Rigoldi M, Benigni A, Remuzzi G, Noris M
Front Immunol 2022;13:1011580. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1011580. PMID: 36793547Free PMC Article
Fremeaux-Bacchi V, Fakhouri F, Garnier A, Bienaimé F, Dragon-Durey MA, Ngo S, Moulin B, Servais A, Provot F, Rostaing L, Burtey S, Niaudet P, Deschênes G, Lebranchu Y, Zuber J, Loirat C
Clin J Am Soc Nephrol 2013 Apr;8(4):554-62. Epub 2013 Jan 10 doi: 10.2215/CJN.04760512. PMID: 23307876Free PMC Article
Loirat C, Frémeaux-Bacchi V
Orphanet J Rare Dis 2011 Sep 8;6:60. doi: 10.1186/1750-1172-6-60. PMID: 21902819Free PMC Article
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article

Clinical prediction guides

Gastoldi S, Aiello S, Galbusera M, Breno M, Alberti M, Bresin E, Mele C, Piras R, Liguori L, Santarsiero D, Benigni A, Remuzzi G, Noris M
Front Immunol 2023;14:1112257. Epub 2023 Feb 9 doi: 10.3389/fimmu.2023.1112257. PMID: 36845135Free PMC Article
Fujisawa M, Kato H, Yoshida Y, Usui T, Takata M, Fujimoto M, Wada H, Uchida Y, Kokame K, Matsumoto M, Fujimura Y, Miyata T, Nangaku M
Clin Exp Nephrol 2018 Oct;22(5):1088-1099. Epub 2018 Mar 6 doi: 10.1007/s10157-018-1549-3. PMID: 29511899Free PMC Article
Ito N, Hataya H, Saida K, Amano Y, Hidaka Y, Motoyoshi Y, Ohta T, Yoshida Y, Terano C, Iwasa T, Kubota W, Takada H, Hara T, Fujimura Y, Ito S
Clin Exp Nephrol 2016 Apr;20(2):265-72. Epub 2015 Jul 9 doi: 10.1007/s10157-015-1142-y. PMID: 26156042
Bresin E, Rurali E, Caprioli J, Sanchez-Corral P, Fremeaux-Bacchi V, Rodriguez de Cordoba S, Pinto S, Goodship TH, Alberti M, Ribes D, Valoti E, Remuzzi G, Noris M; European Working Party on Complement Genetics in Renal Diseases
J Am Soc Nephrol 2013 Feb;24(3):475-86. Epub 2013 Feb 21 doi: 10.1681/ASN.2012090884. PMID: 23431077Free PMC Article
Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, Daina E, Fenili C, Castelletti F, Sorosina A, Piras R, Donadelli R, Maranta R, van der Meer I, Conway EM, Zipfel PF, Goodship TH, Remuzzi G
Clin J Am Soc Nephrol 2010 Oct;5(10):1844-59. Epub 2010 Jul 1 doi: 10.2215/CJN.02210310. PMID: 20595690Free PMC Article

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