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Atypical hemolytic uremic syndrome: Korean pediatric series.

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dc.contributor.authorLee, JM-
dc.contributor.authorPark, YS-
dc.contributor.authorLee, JH-
dc.contributor.authorPark, SJ-
dc.contributor.authorShin, JI-
dc.contributor.authorPark, YH-
dc.contributor.authorYoo, KH-
dc.contributor.authorCho, MH-
dc.contributor.authorKim, SY-
dc.contributor.authorKim, SH-
dc.contributor.authorNamgoong, MK-
dc.contributor.authorLee, SJ-
dc.contributor.authorCho, HY-
dc.contributor.authorHan, KH-
dc.contributor.authorKang, HG-
dc.contributor.authorHa, IS-
dc.contributor.authorBae, JS-
dc.contributor.authorKim, NK-
dc.contributor.authorPark, WY-
dc.contributor.authorCheong, HI-
dc.date.accessioned2017-03-21T06:00:38Z-
dc.date.available2017-03-21T06:00:38Z-
dc.date.issued2015-
dc.identifier.issn1328-8067-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/13608-
dc.description.abstractBACKGROUND: 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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dc.language.isoen-
dc.subject.MESHAtypical Hemolytic Uremic Syndrome-
dc.subject.MESHAutoantibodies-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHComplement Factor H-
dc.subject.MESHFemale-
dc.subject.MESHGene Frequency-
dc.subject.MESHGenetic Predisposition to Disease-
dc.subject.MESHHumans-
dc.subject.MESHIncidence-
dc.subject.MESHInfant-
dc.subject.MESHMale-
dc.subject.MESHMultiplex Polymerase Chain Reaction-
dc.subject.MESHMutation-
dc.subject.MESHRepublic of Korea-
dc.titleAtypical hemolytic uremic syndrome: Korean pediatric series.-
dc.typeArticle-
dc.identifier.pmid25443527-
dc.contributor.affiliatedAuthor박, 세진-
dc.type.localJournal Papers-
dc.identifier.doi10.1111/ped.12549-
dc.citation.titlePediatrics international-
dc.citation.volume57-
dc.citation.number3-
dc.citation.date2015-
dc.citation.startPage431-
dc.citation.endPage438-
dc.identifier.bibliographicCitationPediatrics international, 57(3). : 431-438, 2015-
dc.identifier.eissn1442-200X-
dc.relation.journalidJ013288067-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
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