title: Post-transplant recurrence of atypical hemolytic uremic syndrome in a patient with thrombomodulin mutation.
abstract: HUS is characterized by hemolytic anemia, thrombocytopenia, and acute renal failure. While "typical" HUS is usually associated with Shiga toxin-producing Escherichia coli infections and recovers in the majority of cases, aHUS is caused by mutations of complement components or antibodies against CFH leading to uncontrolled activation of alternative complement pathway and often to ESRD. Recently, THBD gene mutations have been reported in aHUS. Theoretically, the risk of disease recurrence after renal transplantation should be low because THBD is primarily a membrane-bound protein expressed by endothelial cells; however, a small proportion of THBD is present as a soluble form in plasma. We report the case of a 19-yr-old man with aHUS secondary to a THBD mutation that relapsed twice after two renal transplantations performed 12 yr apart. Despite successful control of HUS with plasma exchange and eculizumab after the second transplantation, the graft was ultimately lost due to severe steroid-resistant cellular rejection. The present report suggests that THBD mutations may favor-relapse of aHUS after renal transplantation.
authors.affiliation: Department of Nephrology and Urology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Sinibaldi
authors.forename: Isabella
authors.initials: I
authors.lastname: Guzzo
authors.forename: Rossella
authors.initials: R
authors.lastname: Piras
authors.forename: Elena
authors.initials: E
authors.lastname: Bresin
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
authors.forename: Luca
authors.initials: L
authors.lastname: Dello Strologo
mesh_terms: D061067:Antibodies, Monoclonal, Humanized / Q000627:therapeutic use; D065766:Atypical Hemolytic Uremic Syndrome; D006084:Graft Rejection; D006463:Hemolytic-Uremic Syndrome / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics*; D006801:Humans; D016030:Kidney Transplantation; D008297:Male; D009154:Mutation; D010951:Plasma Exchange; D011183:Postoperative Complications; D012008:Recurrence; D051437:Renal Insufficiency / Q000235:genetics / Q000473:pathology / Q000628:therapy*; D013256:Steroids / Q000627:therapeutic use; D018180:Thrombomodulin / Q000235:genetics*; D055815:Young Adult
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D013256:Steroids; D018180:Thrombomodulin; C481642:eculizumab
keywords: THBD; hemolytic uremic syndrome; relapse; renal transplantation