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Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy

DC FieldValueLanguage
dc.contributor.author신재일-
dc.date.accessioned2018-07-20T08:14:28Z-
dc.date.available2018-07-20T08:14:28Z-
dc.date.issued2017-
dc.identifier.issn0931-041X-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/161006-
dc.description.abstractBACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups. RESULTS: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia. CONCLUSIONS: WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherSpringer International-
dc.relation.isPartOfPediatric Nephrology-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rightshttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAdolescent-
dc.subject.MESHChild-
dc.subject.MESHChild, Preschool-
dc.subject.MESHDisorders of Sex Development/genetics-
dc.subject.MESHDisorders of Sex Development/pathology-
dc.subject.MESHDrug Resistance-
dc.subject.MESHFemale-
dc.subject.MESHGenotype-
dc.subject.MESHGlomerulonephritis/genetics*-
dc.subject.MESHGlomerulonephritis/pathology-
dc.subject.MESHGonadoblastoma/genetics-
dc.subject.MESHGonadoblastoma/pathology-
dc.subject.MESHHumans-
dc.subject.MESHInfant-
dc.subject.MESHInfant, Newborn-
dc.subject.MESHKidney Failure, Chronic/genetics-
dc.subject.MESHKidney Failure, Chronic/pathology-
dc.subject.MESHMale-
dc.subject.MESHMutation-
dc.subject.MESHMutation, Missense-
dc.subject.MESHNephrotic Syndrome/genetics*-
dc.subject.MESHNephrotic Syndrome/pathology-
dc.subject.MESHOvarian Neoplasms/genetics-
dc.subject.MESHOvarian Neoplasms/pathology-
dc.subject.MESHPhenotype-
dc.subject.MESHRepublic of Korea-
dc.subject.MESHSurvival Analysis-
dc.subject.MESHTreatment Outcome-
dc.subject.MESHWT1 Proteins/genetics*-
dc.subject.MESHWilms Tumor/genetics-
dc.subject.MESHWilms Tumor/pathology-
dc.titleGenotype-phenotype analysis of pediatric patients with WT1 glomerulopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine-
dc.contributor.departmentDept. of Pediatrics-
dc.contributor.googleauthorYo Han Ahn-
dc.contributor.googleauthorEu Jin Park-
dc.contributor.googleauthorHee Gyung Kang-
dc.contributor.googleauthorSeong Heon Kim-
dc.contributor.googleauthorHee Yeon Cho-
dc.contributor.googleauthorJae Il Shin-
dc.contributor.googleauthorJoo Hoon Lee-
dc.contributor.googleauthorYoung Seo Park-
dc.contributor.googleauthorKyo Sun Kim-
dc.contributor.googleauthorIl-Soo Ha-
dc.contributor.googleauthorHae Il Cheong-
dc.identifier.doi10.1007/s00467-016-3395-4-
dc.contributor.localIdA02142-
dc.relation.journalcodeJ02488-
dc.identifier.eissn1432-198X-
dc.identifier.pmid27300205-
dc.identifier.urlhttps://link.springer.com/article/10.1007%2Fs00467-016-3395-4-
dc.subject.keywordDiaphragmatic defect-
dc.subject.keywordDisorder of sexual development-
dc.subject.keywordMalignancy-
dc.subject.keywordSteroid-resistant nephrotic syndrome-
dc.subject.keywordWT1 gene-
dc.contributor.alternativeNameShin, Jae Il-
dc.contributor.affiliatedAuthorShin, Jae Il-
dc.citation.volume32-
dc.citation.number1-
dc.citation.startPage81-
dc.citation.endPage89-
dc.identifier.bibliographicCitationPediatric Nephrology, Vol.32(1) : 81-89, 2017-
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)

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