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Atypical hemolytic uremic syndrome: Korean pediatric series

Title
Atypical hemolytic uremic syndrome: Korean pediatric series
Authors
Lee, Jiwon M.Park, Young SeoLee, Joo HoonPark, Se JinShin, Jae IlPark, Yong-HoonYoo, Kee HwanCho, Min HyunKim, Su-YoungKim, Seong HeonNamgoong, Mee KyungLee, Seung JooLee, Jun HoCho, Hee YeonHan, Kyoung HeeKang, Hee GyungHa, Il SooBae, Jun-SeokKim, Nayoung K. D.Park, Woong-YangCheong, Hae Il
Ewha Authors
이승주
SCOPUS Author ID
이승주scopusscopus
Issue Date
2015
Journal Title
PEDIATRICS INTERNATIONAL
ISSN
1328-8067JCR Link1442-200XJCR Link
Citation
vol. 57, no. 3, pp. 431 - 438
Keywords
anti-complement factor H autoantibodyAsianatypical hemolytic uremic syndromecomplement factor Hmutation
Publisher
WILEY-BLACKWELL
Indexed
SCIE; SCOPUS WOS scopus
Abstract
BackgroundAtypical hemolytic uremic syndrome (aHUS) is a rare disease with a genetic predisposition. Few studies have evaluated the disease in the Asian population. We studied a Korean pediatric cohort to delineate the clinical characteristics and genotypes. MethodsA multicenter cohort of 51 Korean children with aHUS was screened for mutations using targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibody (anti-CFH) titers were measured. Multiplex ligation-dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein genes (CFHR) in the patients as well as in 100 healthy Korean controls. We grouped the patients according to etiology and compared the clinical features using Mann-Whitney U-test and chi-squared test. ResultsFifteen patients (group A, 29.7%) had anti-CFH, and mutations were detected in 11 (group B, 21.6%), including one with combined mutations. The remaining 25 (group C, 49.0%) were negative for both. The prevalence of anti-CFH was higher than the worldwide level. Group A had a higher onset age than group B, although the difference was not significant. Group B had the worst renal outcome. Gene frequencies of homozygous CFHR1 deletion were 73.3%, 2.7% and 1% in group A, group B + C and the control, respectively. ConclusionsThe incidence of anti-CFH in the present Korean aHUS cohort was high. Clinical outcomes largely conformed to the previous reports. Although the sample size was limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children.
DOI
10.1111/ped.12549
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의학전문대학원 > 의학과 > Journal papers
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