title: Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.
abstract: Atypical hemolytic uremic syndrome, or the nondiarrheal form of hemolytic uremic syndrome, is a rare disorder typically classified as familial or sporadic. Recent literature has suggested that approximately 50% of patients have mutations in factor H (CFH), factor I (CFI), or membrane cofactor protein (encoded by CD46). Importantly, results of renal transplantation in patients with mutations in either CFH or CFI are dismal, with recurrent disease leading to graft loss in the majority of cases. We describe an adult renal transplant recipient who developed recurrent hemolytic uremic syndrome 1 month after transplantation. Bidirectional sequencing of CFH, CFI, and CD46 confirmed that the patient was heterozygous for a novel missense mutation, a substitution of a serine reside for a tyrosine residue at amino acid 369, in CFI. This report reemphasizes the importance of screening patients with atypical hemolytic uremic syndrome for mutations in these genes before renal transplantation and shows the challenges in the management of these patients.
authors.affiliation: Department of Medicine, Section of Nephrology, University of Wisconsin Hospitals and Clinics, Madison, WI, USA. mr.chan@hosp.wisc.edu
authors.forename: Micah R
authors.initials: MR
authors.lastname: Chan
authors.forename: Christie P
authors.initials: CP
authors.lastname: Thomas
authors.forename: Jose R
authors.initials: JR
authors.lastname: Torrealba
authors.forename: Arjang
authors.initials: A
authors.lastname: Djamali
authors.forename: Luis A
authors.initials: LA
authors.lastname: Fernandez
authors.forename: Carla J
authors.initials: CJ
authors.lastname: Nishimura
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
authors.forename: Millie D
authors.initials: MD
authors.lastname: Samaniego
mesh_terms: D000328:Adult; D017242:Complement Factor H / Q000235:genetics; D017244:Complement Factor I / Q000235:genetics*; D005260:Female; D006463:Hemolytic-Uremic Syndrome / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D006801:Humans; D016030:Kidney Transplantation / Q000009:adverse effects*; D019520:Living Donors; D020125:Mutation, Missense; D012008:Recurrence
chemical_list: D017242:Complement Factor H; D017244:Complement Factor I