title: A 'silent', new polymorphism of factor H and apparent de novo atypical haemolytic uraemic syndrome after kidney transplantation.
abstract: The pathophysiology of atypical haemolytic-uraemic syndrome (aHUS) occurring de novo after renal transplantation may include genetic mutations of regulators of complement activation, but they are still rarely determined. A 41-year-old female renal transplant recipient presented two very different episodes of thrombotic microangiopathy. The first episode was associated with antibody-mediated rejection and the second was an isolated, acute aHUS, successfully treated with eculizumab. The diagnosis included a genetic analysis and we found a synonymous variant in the Complement Factor H (CFH) gene, c2634C>T (p.His878=) and low factor H (FH) activity during both events. In conclusion, the diagnosis of aHUS should be considered when TMA is associated with an AMR episode. In this setting, a silent polymorphism of factor H may be responsible for these rare cases of "de novo" aHUS after transplantation.
authors.affiliation: Département de Néphrologie, Dialyse et Transplantation Rénale, Cliniques Universitaires de Bruxelles, ULB-Hôpital Erasme, Brussels, Belgium.
authors.forename: Emine N
authors.identifier: http://orcid.org/0000-0001-5377-9335
authors.initials: EN
authors.lastname: Broeders
authors.affiliation: Clinique d'Immunobiologie, ULB-Hôpital Erasme, Brussels, Belgium.
authors.forename: Patrick
authors.initials: P
authors.lastname: Stordeur
authors.affiliation: Laboratoire d'Anatomie Pathologique, ULB-Hôpital Erasme, Brussels, Belgium.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Rorive
authors.affiliation: Département de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
authors.forename: Karin
authors.initials: K
authors.lastname: Dahan
mesh_terms: D000328:Adult; D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D065766:Atypical Hemolytic Uremic Syndrome / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics*; D017242:Complement Factor H / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006084:Graft Rejection / Q000209:etiology*; D006801:Humans; D007668:Kidney / Q000473:pathology* / Q000601:surgery; D016030:Kidney Transplantation / Q000009:adverse effects*; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011183:Postoperative Complications / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics; D057049:Thrombotic Microangiopathies / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology / Q000235:genetics
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D017242:Complement Factor H; C481642:eculizumab