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Lookup NU author(s): Dr Sally Johnson, Dr Michal Malina
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© 2018 International Society of Nephrology Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The Global aHUS Registry collects real-world data on the natural history of the disease. Here we characterize end-stage renal disease (ESRD)-free survival, the rate of thrombotic microangiopathy, organ involvement and the genetic background of 851 patients in the registry, prior to eculizumab treatment. A sex-specific difference was apparent according to age at initial disease onset as the ratio of males to females was 1.3:1 for childhood presentation and 1:2 for adult presentation. Complement Factor I and Membrane Cofactor Protein mutations were more common in patients with initial presentation as adults and children, respectively. Initial presentation in childhood significantly predicted ESRD risk (adjusted hazard ratio 0.55 [95% confidence interval 0.41–0.73], whereas sex, race, family history of aHUS, and time from initial presentation to diagnosis, did not. Patients with a Complement Factor H mutation had reduced ESRD-free survival, whereas Membrane Cofactor Protein mutation was associated with longer ESRD-free survival. Additionally extrarenal organ manifestations occur in 19%–38% of patients within six months of initial disease presentation (dependent on organ). Thus, our real-world results provide novel insights regarding phenotypic variables and genotypes on the clinical manifestation and progression of aHUS.
Author(s): Schaefer F, Ardissino G, Ariceta G, Fakhouri F, Scully M, Isbel N, Lommele A, Kupelian V, Gasteyger C, Greenbaum LA, Johnson S, Ogawa M, Licht C, Vande Walle J, Fremeaux-Bacchi V, Blasco M, Cresseri D, Generolova G, Webb N, Hirt-Minkowski P, Lvovna Kozlovskaya N, Landau D, Lapeyraque A-L, Loirat C, Mache C, Malina M, Martola L, Massart A, Rondeau E, Siedlecki A, Sartz L
Publication type: Article
Publication status: Published
Journal: Kidney International
Year: 2018
Volume: 94
Issue: 2
Pages: 408-418
Print publication date: 01/08/2018
Online publication date: 19/06/2018
Acceptance date: 15/02/2018
ISSN (print): 0085-2538
ISSN (electronic): 1523-1755
Publisher: Elsevier Inc.
URL: https://doi.org/10.1016/j.kint.2018.02.029
DOI: 10.1016/j.kint.2018.02.029
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