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Genetic basis of Bartter syndrome in Korea

DC FieldValueLanguage
dc.contributor.author신재일-
dc.date.accessioned2014-12-19T17:29:47Z-
dc.date.available2014-12-19T17:29:47Z-
dc.date.issued2012-
dc.identifier.issn0931-0509-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/91516-
dc.description.abstractBACKGROUND: Bartter syndrome (BS) is clinically classified into antenatal or neonatal BS (aBS) and classic BS (cBS) as well as five subtypes based on the underlying mutant gene; SLC12A1 (BS I), KCNJ1 (BS II), CLCNKB (BS III), BSND (BS IV) and CASR (BS V). METHODS: Clinico-genetic features of a nationwide cohort of 26 Korean children with BS were investigated. RESULTS: The clinical diagnosis was aBS in 8 (30.8%), cBS in 15 (57.7%) and mixed Bartter-Gitelman phenotype in 3 cases (11.5%). Five of eight patients with aBS and all 18 patients with either cBS or mixed Bartter-Gitelman phenotype had CLCNKB mutations. Among the 23 patients (46 alleles) with CLCNKB mutations, p.W610X and large deletions were detected in 25 (54.3%) and 10 (21.7%) alleles, respectively. There was no genotype-phenotype correlation in patients with CLCNKB mutations. CONCLUSIONS: Twenty-three (88.5%) of the 26 BS patients involved in this study had CLCNKB mutations. The p.W610X mutation and large deletion were two common types of mutations in CLCNKB. The clinical manifestations of BS III were heterogeneous without a genotype-phenotype correlation, typically manifesting cBS phenotype but also aBS or mixed Bartter-Gitelman phenotypes. The molecular diagnostic steps for patients with BS in our population should be designed taking these peculiar genotype distributions into consideration, and a new more clinically relevant classification including BS and Gitelman syndrome is required.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfNephrology Dialysis Transplantation-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.titleGenetic basis of Bartter syndrome in Korea-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pediatrics (소아과학)-
dc.contributor.googleauthorBeom Hee Lee-
dc.contributor.googleauthorHee Yeon Cho-
dc.contributor.googleauthorHyunKyung Lee-
dc.contributor.googleauthorKyoung Hee Han-
dc.contributor.googleauthorHee Gyung Kang-
dc.contributor.googleauthorIl Soo Ha-
dc.contributor.googleauthorJoo Hoon Lee-
dc.contributor.googleauthorYoung Seo Park-
dc.contributor.googleauthorJae Il Shin-
dc.contributor.googleauthorDae-Yeol Lee-
dc.contributor.googleauthorSu-Yung Kim-
dc.contributor.googleauthorYong Choi-
dc.contributor.googleauthorHae Il Cheong-
dc.identifier.doi10.1093/ndt/gfr475-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA02142-
dc.relation.journalcodeJ02316-
dc.identifier.urlhttp://ndt.oxfordjournals.org/content/27/4/1516.long-
dc.contributor.alternativeNameShin, Jae Il-
dc.contributor.affiliatedAuthorShin, Jae Il-
dc.citation.volume27-
dc.citation.number4-
dc.citation.startPage1516-
dc.citation.endPage1521-
dc.identifier.bibliographicCitationNephrology Dialysis Transplantation, Vol.27(4) : 1516-1521, 2012-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)

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