An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome

ConclusionAn extremely rare, heterozygous mutation in the gene encoding CFI likely affecting splicing was associated for the first time with aHUS. Sequencing was critical for rapid diagnosis and subsequent timely treatment with eculizumab, which resulted in improved renal function.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1002%2Fjca.21549

Source: Journal of Clinical Apheresis - April 1, 2017 Category: Hematology Authors: Tina S. Ipe, Jooeun Lim, Meredith Anne Reyes, Mike Ero, Christopher Leveque, Bradley Lewis, Jamey Kain Tags: CASE REPORT Source Type: research