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Familial Atypical Hemolytic-Uremic Syndrome

MedGen UID:
885565
•Concept ID:
C4055018
•
Disease or Syndrome
Synonym: Familial Atypical Hemolytic Uremic Syndrome

Definition

Hemolytic uremic syndrome associated with an inherited defect, but which is not associated with shiga toxin-producing enterobacteria. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial Atypical Hemolytic-Uremic Syndrome

Professional guidelines

PubMed

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.
Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S
J Clin Immunol 2020 May;40(4):576-591. Epub 2020 Feb 17 doi: 10.1007/s10875-020-00754-1. PMID: 32064578Free PMC Article
Thrombotic microangiopathies of pregnancy: Differential diagnosis.
Gupta M, Feinberg BB, Burwick RM
Pregnancy Hypertens 2018 Apr;12:29-34. Epub 2018 Feb 16 doi: 10.1016/j.preghy.2018.02.007. PMID: 29674195
An international consensus approach to the management of atypical hemolytic uremic syndrome in children.
Loirat C, Fakhouri F, Ariceta G, Besbas N, Bitzan M, Bjerre A, Coppo R, Emma F, Johnson S, Karpman D, Landau D, Langman CB, Lapeyraque AL, Licht C, Nester C, Pecoraro C, Riedl M, van de Kar NC, Van de Walle J, Vivarelli M, Frémeaux-Bacchi V; HUS International
Pediatr Nephrol 2016 Jan;31(1):15-39. Epub 2015 Apr 11 doi: 10.1007/s00467-015-3076-8. PMID: 25859752

Recent clinical studies

Etiology

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.
Ramos de Carvalho JE, Schlingemann RO, Oranje M, Bemelman FJ, van Schooneveld MJ
Int Ophthalmol 2018 Feb;38(1):399-407. Epub 2017 Mar 8 doi: 10.1007/s10792-017-0470-1. PMID: 28275964Free PMC Article
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M
Clin J Am Soc Nephrol 2015 Jun 5;10(6):1011-9. Epub 2015 Apr 8 doi: 10.2215/CJN.08520814. PMID: 25854283Free PMC Article

Diagnosis

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.
Ramos de Carvalho JE, Schlingemann RO, Oranje M, Bemelman FJ, van Schooneveld MJ
Int Ophthalmol 2018 Feb;38(1):399-407. Epub 2017 Mar 8 doi: 10.1007/s10792-017-0470-1. PMID: 28275964Free PMC Article
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M
Clin J Am Soc Nephrol 2015 Jun 5;10(6):1011-9. Epub 2015 Apr 8 doi: 10.2215/CJN.08520814. PMID: 25854283Free PMC Article

Therapy

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.
Ramos de Carvalho JE, Schlingemann RO, Oranje M, Bemelman FJ, van Schooneveld MJ
Int Ophthalmol 2018 Feb;38(1):399-407. Epub 2017 Mar 8 doi: 10.1007/s10792-017-0470-1. PMID: 28275964Free PMC Article
Adult Post-Kidney Transplant Familial Atypical Hemolytic Uremic Syndrome Successfully Treated With Eculizumab: A Case Report and Literature Review.
Salameh H, Abu Omar M, Alhariri A, Kisra S, Qasem A, Abdulhak AB
Am J Ther 2016 Jul-Aug;23(4):e1110-5. doi: 10.1097/MJT.0000000000000133. PMID: 25486517

Prognosis

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.
Ramos de Carvalho JE, Schlingemann RO, Oranje M, Bemelman FJ, van Schooneveld MJ
Int Ophthalmol 2018 Feb;38(1):399-407. Epub 2017 Mar 8 doi: 10.1007/s10792-017-0470-1. PMID: 28275964Free PMC Article
Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M
Clin J Am Soc Nephrol 2015 Jun 5;10(6):1011-9. Epub 2015 Apr 8 doi: 10.2215/CJN.08520814. PMID: 25854283Free PMC Article
Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.
Bu F, Borsa N, Gianluigi A, Smith RJ
Clin Dev Immunol 2012;2012:370426. Epub 2012 Nov 8 doi: 10.1155/2012/370426. PMID: 23251215Free PMC Article

Clinical prediction guides

Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M
Clin J Am Soc Nephrol 2015 Jun 5;10(6):1011-9. Epub 2015 Apr 8 doi: 10.2215/CJN.08520814. PMID: 25854283Free PMC Article

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