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Hemolytic uremic syndrome, atypical, childhood

MedGen UID:
430731
•Concept ID:
CN036211
•
Disease or Syndrome
Synonym: Atypical childhood HUS

Disease characteristics

Excerpted from the GeneReview: Genetic Atypical Hemolytic-Uremic Syndrome
Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD). [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Marina Noris  |  Elena Bresin  |  Caterina Mele, et. al.   view full author information

Professional guidelines

PubMed

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome.
Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB; European Paediatric Study Group for HUS
Pediatr Nephrol 2009 Apr;24(4):687-96. Epub 2008 Sep 18 doi: 10.1007/s00467-008-0964-1. PMID: 18800230
Treatment and outcome of Shiga-toxin-associated hemolytic uremic syndrome (HUS).
Scheiring J, Andreoli SP, Zimmerhackl LB
Pediatr Nephrol 2008 Oct;23(10):1749-60. Epub 2008 Aug 13 doi: 10.1007/s00467-008-0935-6. PMID: 18704506Free PMC Article

Recent clinical studies

Etiology

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.
Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommelé Å, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Frémeaux-Bacchi V; Global aHUS Registry
Kidney Int 2018 Aug;94(2):408-418. Epub 2018 Jun 19 doi: 10.1016/j.kint.2018.02.029. PMID: 29907460
Extra-Renal manifestations of atypical hemolytic uremic syndrome in children.
Fidan K, Göknar N, Gülhan B, Melek E, Yıldırım ZY, Baskın E, Hayran M, Gülleroglu K, Özçakar ZB, Ozaltin F, Soylemezoglu O
Pediatr Nephrol 2018 Aug;33(8):1395-1403. Epub 2018 Apr 2 doi: 10.1007/s00467-018-3933-3. PMID: 29610995
Hemolytic-Uremic Syndrome in childhood.
Vaisbich MH
J Bras Nefrol 2014 Apr-Jun;36(2):208-20. doi: 10.5935/0101-2800.20140032. PMID: 25055362
Typical and atypical hemolytic uremic syndrome.
Proesmans W
Kidney Blood Press Res 1996;19(3-4):205-8. doi: 10.1159/000174075. PMID: 8887262

Diagnosis

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.
Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommelé Å, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Frémeaux-Bacchi V; Global aHUS Registry
Kidney Int 2018 Aug;94(2):408-418. Epub 2018 Jun 19 doi: 10.1016/j.kint.2018.02.029. PMID: 29907460
Thrombotic microangiopathy: focus on atypical hemolytic uremic syndrome.
Sperati CJ, Moliterno AR
Hematol Oncol Clin North Am 2015 Jun;29(3):541-59. Epub 2015 Apr 4 doi: 10.1016/j.hoc.2015.02.002. PMID: 26043391
Hemolytic-Uremic Syndrome in childhood.
Vaisbich MH
J Bras Nefrol 2014 Apr-Jun;36(2):208-20. doi: 10.5935/0101-2800.20140032. PMID: 25055362
Genetics and CKD.
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372

Therapy

A Guide for Adult Nephrologists and Hematologists to Managing Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy in Teens Transitioning to Young Adults.
Riedl Khursigara M, Matsuda-Abedini M, Radhakrishnan S, Hladunewich MA, Lemaire M, Teoh CW, Noone D, Licht C
Adv Chronic Kidney Dis 2022 May;29(3):231-242. doi: 10.1053/j.ackd.2022.04.003. PMID: 36084970
Extra-Renal manifestations of atypical hemolytic uremic syndrome in children.
Fidan K, Göknar N, Gülhan B, Melek E, Yıldırım ZY, Baskın E, Hayran M, Gülleroglu K, Özçakar ZB, Ozaltin F, Soylemezoglu O
Pediatr Nephrol 2018 Aug;33(8):1395-1403. Epub 2018 Apr 2 doi: 10.1007/s00467-018-3933-3. PMID: 29610995
Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan.
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
Novel aspects of atypical haemolytic uraemic syndrome and the role of eculizumab.
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
Treatment and outcome of Shiga-toxin-associated hemolytic uremic syndrome (HUS).
Scheiring J, Andreoli SP, Zimmerhackl LB
Pediatr Nephrol 2008 Oct;23(10):1749-60. Epub 2008 Aug 13 doi: 10.1007/s00467-008-0935-6. PMID: 18704506Free PMC Article

Prognosis

Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.
Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommelé Å, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Frémeaux-Bacchi V; Global aHUS Registry
Kidney Int 2018 Aug;94(2):408-418. Epub 2018 Jun 19 doi: 10.1016/j.kint.2018.02.029. PMID: 29907460
Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults.
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
Genetics and CKD.
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372
Treatment and outcome of Shiga-toxin-associated hemolytic uremic syndrome (HUS).
Scheiring J, Andreoli SP, Zimmerhackl LB
Pediatr Nephrol 2008 Oct;23(10):1749-60. Epub 2008 Aug 13 doi: 10.1007/s00467-008-0935-6. PMID: 18704506Free PMC Article
Typical and atypical hemolytic uremic syndrome.
Proesmans W
Kidney Blood Press Res 1996;19(3-4):205-8. doi: 10.1159/000174075. PMID: 8887262

Clinical prediction guides

Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome.
Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommelé Å, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Frémeaux-Bacchi V; Global aHUS Registry
Kidney Int 2018 Aug;94(2):408-418. Epub 2018 Jun 19 doi: 10.1016/j.kint.2018.02.029. PMID: 29907460
Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan.
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
Genetics and genetic testing in hemolytic uremic syndrome/thrombotic thrombocytopenic purpura.
Noris M, Remuzzi G
Semin Nephrol 2010 Jul;30(4):395-408. doi: 10.1016/j.semnephrol.2010.06.006. PMID: 20807612
Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.
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
Typical and atypical hemolytic uremic syndrome.
Proesmans W
Kidney Blood Press Res 1996;19(3-4):205-8. doi: 10.1159/000174075. PMID: 8887262

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