BACKGROUND: @entity1381 ( @entity1381 ) is a @entity395 with a genetic predisposition. Few studies have evaluated the disease in Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes. METHODS: A multicenter cohort of 51 Korean @entity1 with @entity1381 was screened for mutations by targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibodies (anti- @entity4050 ) titers were measured. Multiplex ligation dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein genes (CFHRs). We grouped the @entity1 according to the etiology and compared the clinical features using the Mann-Whitney U test and chi-square test. RESULTS: Fifteen @entity1 (Group A, 29.7%) had anti- @entity4050 and mutations were detected in 11(Group B, 21.6%) @entity1 , including one with combined mutations. Remaining 25(Group C, 49.0%) were neither-positive. Anti- @entity4050 -association was more frequent than the world-wide prevalence. Group A showed older onset age than Group B, although did not significantly differ in the clinical manifestation. Group B showed worst renal outcome. Gene frequencies of homozygous @entity8173 deletion were 73.3%, 2.7% and 1% in Group A, Group B+C and the control, respectively. CONCLUSIONS: In our cohort, we observed a relatively high incidence of anti- @entity4050 -association. Clinical outcomes largely conformed to the previous reports. Although the size is limited, this cohort provides a reassessment of clinicogenetic features of @entity1381 in Korean @entity1 .

XXXX : a Korean pediatric series.

@entity1 :: ('9606', 'Species') :: ['children', 'patients'] @entity8173 :: ('3078', 'Gene') :: ['CFHR1'] @entity1381 :: ('MESH:D006463', 'Disease') :: ['aHUS', 'Atypical hemolytic uremic syndrome'] @entity395 :: ('MESH:D035583', 'Disease') :: ['rare disease'] @entity4050 :: ('3075', 'Gene') :: ['CFH']
@entity1381 :: (MESH:D006463,Disease) :: ['Atypical hemolytic uremic syndrome']
