Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

ABSTRACT:

Background and objectives

Hemolytic uremic syndrome (HUS) is characterized by microangiopathic hemolytic anemia, thrombocytopenia, and renal impairment. Most childhood cases are caused by Shiga toxin-producing bacteria. The other form, atypical HUS (aHUS), accounts for 10% of cases and has a poor prognosis. Genetic complement abnormalities have been found in aHUS.

Design, setting, participants, and measurements

We screened 273 consecutive patients with aHUS for complement abnormalities and studied their role in predicting clinical phenotype and response to treatment. We compared mutation frequencies and localization and clinical outcome in familial (82) and sporadic (191) cases.

Results

In >70% of sporadic and familial cases, gene mutations, disease-associated factor

SUBMITTER: Noris M 

PROVIDER: S-EPMC2974386 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature