Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients.

ABSTRACT:

Background

Atypical hemolytic uremic syndrome (aHUS) is a devastating disease with significant morbidity and mortality. Its genetic heterogeneity impacts its clinical presentation, progress, and outcome, and there is no consensus on its clinical management.

Methods

To identify the characteristics of aHUS in Turkish children, an industry-independent registry was established for data collection that includes both retrospective and prospective patients.

Results

In total, 146 patients (62 boys, 84 girls) were enrolled; 53 patients (36.3%) were less than 2 years old at initial presentation. Among the 42 patients (37.1%) whose mutation screening was complete for CFH, CFI, MCP, CFB, C3, DGKE, and CHFR5 genes, underlying genetic abnormalities were uncovered in 34 patients (80

SUBMITTER: Besbas N 

PROVIDER: S-EPMC5217238 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature