Atypical hemolytic uremic syndrome

Korean pediatric series

Jiwon M. Lee, Young Seo Park, Joo Hoon Lee, Se Jin Park, Jaeil Shin, Yong Hoon Park, Kee Hwan Yoo, Min Hyun Cho, Su Young Kim, Seong Heon Kim, Mee Kyung Namgoong, Seung Joo Lee, Jun Ho Lee, Hee Yeon Cho, Kyoung Hee Han, Hee Gyung Kang, Il Soo Ha, Jun Seok Bae, Nayoung K.D. Kim, Woong Yang Park & 1 others Hae Il Cheong

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Background: Atypical 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. Methods: A 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. Results: Fifteen 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. Conclusions: The 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.

Original languageEnglish
Pages (from-to)431-438
Number of pages8
JournalPediatrics International
Volume57
Issue number3
DOIs
Publication statusPublished - 2015 Jun 1

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Complement Factor H
Autoantibodies
Pediatrics
Mutation
Exome
Multiplex Polymerase Chain Reaction
Genetic Predisposition to Disease
Nonparametric Statistics
Rare Diseases
Gene Frequency
Sample Size
Age Groups
Genotype
Atypical Hemolytic Uremic Syndrome
Kidney
Incidence
Population
Genes
Proteins

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Lee, J. M., Park, Y. S., Lee, J. H., Park, S. J., Shin, J., Park, Y. H., ... Cheong, H. I. (2015). Atypical hemolytic uremic syndrome: Korean pediatric series. Pediatrics International, 57(3), 431-438. https://doi.org/10.1111/ped.12549
Lee, Jiwon M. ; Park, Young Seo ; Lee, Joo Hoon ; Park, Se Jin ; Shin, Jaeil ; Park, Yong Hoon ; Yoo, Kee Hwan ; Cho, Min Hyun ; Kim, Su Young ; Kim, Seong Heon ; Namgoong, Mee Kyung ; Lee, Seung Joo ; Lee, Jun Ho ; Cho, Hee Yeon ; Han, Kyoung Hee ; Kang, Hee Gyung ; Ha, Il Soo ; Bae, Jun Seok ; Kim, Nayoung K.D. ; Park, Woong Yang ; Cheong, Hae Il. / Atypical hemolytic uremic syndrome : Korean pediatric series. In: Pediatrics International. 2015 ; Vol. 57, No. 3. pp. 431-438.
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abstract = "Background: Atypical 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. Methods: A 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. Results: Fifteen 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. Conclusions: The 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.",
author = "Lee, {Jiwon M.} and Park, {Young Seo} and Lee, {Joo Hoon} and Park, {Se Jin} and Jaeil Shin and Park, {Yong Hoon} and Yoo, {Kee Hwan} and Cho, {Min Hyun} and Kim, {Su Young} and Kim, {Seong Heon} and Namgoong, {Mee Kyung} and Lee, {Seung Joo} and Lee, {Jun Ho} and Cho, {Hee Yeon} and Han, {Kyoung Hee} and Kang, {Hee Gyung} and Ha, {Il Soo} and Bae, {Jun Seok} and Kim, {Nayoung K.D.} and Park, {Woong Yang} and Cheong, {Hae Il}",
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Lee, JM, Park, YS, Lee, JH, Park, SJ, Shin, J, Park, YH, Yoo, KH, Cho, MH, Kim, SY, Kim, SH, Namgoong, MK, Lee, SJ, Lee, JH, Cho, HY, Han, KH, Kang, HG, Ha, IS, Bae, JS, Kim, NKD, Park, WY & Cheong, HI 2015, 'Atypical hemolytic uremic syndrome: Korean pediatric series', Pediatrics International, vol. 57, no. 3, pp. 431-438. https://doi.org/10.1111/ped.12549

Atypical hemolytic uremic syndrome : Korean pediatric series. / Lee, Jiwon M.; Park, Young Seo; Lee, Joo Hoon; Park, Se Jin; Shin, Jaeil; Park, Yong Hoon; Yoo, Kee Hwan; Cho, Min Hyun; Kim, Su Young; Kim, Seong Heon; Namgoong, Mee Kyung; Lee, Seung Joo; Lee, Jun Ho; Cho, Hee Yeon; Han, Kyoung Hee; Kang, Hee Gyung; Ha, Il Soo; Bae, Jun Seok; Kim, Nayoung K.D.; Park, Woong Yang; Cheong, Hae Il.

In: Pediatrics International, Vol. 57, No. 3, 01.06.2015, p. 431-438.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Atypical hemolytic uremic syndrome

T2 - Korean pediatric series

AU - Lee, Jiwon M.

AU - Park, Young Seo

AU - Lee, Joo Hoon

AU - Park, Se Jin

AU - Shin, Jaeil

AU - Park, Yong Hoon

AU - Yoo, Kee Hwan

AU - Cho, Min Hyun

AU - Kim, Su Young

AU - Kim, Seong Heon

AU - Namgoong, Mee Kyung

AU - Lee, Seung Joo

AU - Lee, Jun Ho

AU - Cho, Hee Yeon

AU - Han, Kyoung Hee

AU - Kang, Hee Gyung

AU - Ha, Il Soo

AU - Bae, Jun Seok

AU - Kim, Nayoung K.D.

AU - Park, Woong Yang

AU - Cheong, Hae Il

PY - 2015/6/1

Y1 - 2015/6/1

N2 - Background: Atypical 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. Methods: A 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. Results: Fifteen 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. Conclusions: The 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.

AB - Background: Atypical 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. Methods: A 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. Results: Fifteen 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. Conclusions: The 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.

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U2 - 10.1111/ped.12549

DO - 10.1111/ped.12549

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VL - 57

SP - 431

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JO - Pediatrics International

JF - Pediatrics International

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