Recurrent atypical hemolytic uremic syndrome associated with factor I mutation in a living related renal transplant recipient.
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.
Chan
Micah R
MR
Department of Medicine, Section of Nephrology, University of Wisconsin Hospitals and Clinics, Madison, WI, USA. mr.chan@hosp.wisc.edu
Thomas
Christie P
CP
Torrealba
Jose R
JR
Djamali
Arjang
A
Fernandez
Luis A
LA
Nishimura
Carla J
CJ
Smith
Richard J H
RJ
Samaniego
Millie D
MD
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
D017242:Complement Factor H; D017244:Complement Factor I