Ontology highlight
ABSTRACT:
SUBMITTER: Roumenina LT
PROVIDER: S-EPMC3359738 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Roumenina Lubka T LT Frimat Marie M Miller Elizabeth C EC Provot Francois F Dragon-Durey Marie-Agnes MA Bordereau Pauline P Bigot Sylvain S Hue Christophe C Satchell Simon C SC Mathieson Peter W PW Mousson Christiane C Noel Christian C Sautes-Fridman Catherine C Halbwachs-Mecarelli Lise L Atkinson John P JP Lionet Arnaud A Fremeaux-Bacchi Veronique V
Blood 20120113 18
Atypical hemolytic uremic syndrome (aHUS) is a rare renal thrombotic microangiopathy commonly associated with rare genetic variants in complement system genes, unique to each patient/family. Here, we report 14 sporadic aHUS patients carrying the same mutation, R139W, in the complement C3 gene. The clinical presentation was with a rapid progression to end-stage renal disease (6 of 14) and an unusually high frequency of cardiac (8 of 14) and/or neurologic (5 of 14) events. Although resting glomeru ...[more]