Journal Article

A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome

Tara K. Maga, Nicole C. Meyer, Craig Belsha, Carla J. Nishimura, Yuzhou Zhang and Richard J. H. Smith

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 26, issue 2, pages 739-741
Published in print February 2011 | ISSN: 0931-0509
Published online October 2010 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfq658
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome

Show Summary Details

Preview

Atypical hemolytic uremic syndrome (aHUS) is a complex complement-mediated disease that progresses to end-stage renal failure (ESRF) in 50% of cases. Dysregulation of the alternative pathway (AP) of the complement cascade manifests as microangiopathic anaemia and thrombocytopenia. Multiple genes in the AP have been implicated in disease pathogenesis. Here, we report the clinical presentation of an affected patient that was inconsistent with genotype–phenotype data for carriers of CD46 mutations. Tests of AP function in this patient suggested additional genetic factors, and in-depth studies revealed a de novo heterozygous deletion that creates a novel CFH/CFHR1 fusion protein.

Keywords: aHUS; complement; deletion; kidney transplantation

Journal Article.  1495 words.  Illustrated.

Subjects: Nephrology

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.