Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

Geerdink, Lianne; Westra, Dineke; van Wijk, Joanna; Dorresteijn, Eiske; Lilien, Marc; Davin, Jean-Claude; Komhoff, Martin; Van Hoeck, Koen; van der Vlugt, Amerins; van den Heuvel, Lambertus; van de Kar, Nicole

doi:10.1007/s00467-012-2131-y

Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics

Geerdink L. M., Westra D., van Wijk J. A. E., Dorresteijn E. M., Lilien M. R., Davin J., ...More

PEDIATRIC NEPHROLOGY, vol.27, no.8, pp.1283-1291, 2012 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 27 Issue: 8
Publication Date: 2012
Doi Number: 10.1007/s00467-012-2131-y
Journal Name: PEDIATRIC NEPHROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1283-1291
Keywords: Atypical HUS, Complement regulation, Plasma therapy, Dialysis, Transplantation, Clinical outcome
Dokuz Eylül University Affiliated: No

Abstract

Mutations in complement factor H (CFH), factor I (CFI), factor B (CFB), thrombomodulin (THBD), C3 and membrane cofactor protein (MCP), and autoantibodies against factor H (alpha FH) with or without a homozygous deletion in CFH-related protein 1 and 3 (a dagger CFHR1/3) predispose development of atypical hemolytic uremic syndrome (aHUS).