S-Space College of Medicine/School of Medicine (의과대학/대학원) Dept. of Medicine (의학과) Theses (Ph.D. / Sc.D._의학과)
Atypical hemolytic uremic syndrome in children
소아 비전형적 용혈성 요독증후군에서 분자유전학적 및 면역학적 원인 규명과 임상상 분석
- 의과대학 의학과
- Issue Date
- 서울대학교 대학원
- atypical hemolytic syndrome
- 학위논문 (박사)-- 서울대학교 대학원 : 의학과, 2015. 2. 정해일.
- Introduction: Atypical hemolytic uremic syndrome (aHUS) is a rare disease with a genetic predisposition. We studied a Korean pediatric cohort to delineate the various etiologies and clinical characteristics.
Methods: A multicenter cohort of 51 Korean children with aHUS was screened for mutations by targeted exome sequencing covering 46 complement related genes. Anti-complement-factor-H autoantibodies (anti-CFH) titers were measured. Multiplex ligation dependent probe amplification assay was performed to detect deletions in the complement factor-H related protein (CFHR) genes. We grouped the patients according to the etiology and compared the clinical features using the Mann-Whitney U test and chi-square test.
Results: Fifteen patients (Group A, 29.7%) had anti-CFH and mutations were detected in 11 (Group B, 21.6%) patients, including one with combined mutations. The remaining 25 (Group C, 49.0%) were neither–positive. Anti-CFH-association was more frequent than the world-wide prevalence. Group A showed older onset age than Group B. Group B showed 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.
Conclusions: In our cohort, we observed a relatively high incidence of anti-CFH-association. Clinical outcomes largely conformed to the previous reports. Although the size is limited, this cohort provides a reassessment of clinicogenetic features of aHUS in Korean children.