Cited 23 times in
Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy
DC Field | Value | Language |
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dc.contributor.author | 신재일 | - |
dc.date.accessioned | 2018-07-20T08:14:28Z | - |
dc.date.available | 2018-07-20T08:14:28Z | - |
dc.date.issued | 2017 | - |
dc.identifier.issn | 0931-041X | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/161006 | - |
dc.description.abstract | BACKGROUND: 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.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Springer International | - |
dc.relation.isPartOf | PEDIATRIC NEPHROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Child, Preschool | - |
dc.subject.MESH | Disorders of Sex Development/genetics | - |
dc.subject.MESH | Disorders of Sex Development/pathology | - |
dc.subject.MESH | Drug Resistance | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Glomerulonephritis/genetics* | - |
dc.subject.MESH | Glomerulonephritis/pathology | - |
dc.subject.MESH | Gonadoblastoma/genetics | - |
dc.subject.MESH | Gonadoblastoma/pathology | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant | - |
dc.subject.MESH | Infant, Newborn | - |
dc.subject.MESH | Kidney Failure, Chronic/genetics | - |
dc.subject.MESH | Kidney Failure, Chronic/pathology | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Mutation, Missense | - |
dc.subject.MESH | Nephrotic Syndrome/genetics* | - |
dc.subject.MESH | Nephrotic Syndrome/pathology | - |
dc.subject.MESH | Ovarian Neoplasms/genetics | - |
dc.subject.MESH | Ovarian Neoplasms/pathology | - |
dc.subject.MESH | Phenotype | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Survival Analysis | - |
dc.subject.MESH | Treatment Outcome | - |
dc.subject.MESH | WT1 Proteins/genetics* | - |
dc.subject.MESH | Wilms Tumor/genetics | - |
dc.subject.MESH | Wilms Tumor/pathology | - |
dc.title | Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine | - |
dc.contributor.department | Dept. of Pediatrics | - |
dc.contributor.googleauthor | Yo Han Ahn | - |
dc.contributor.googleauthor | Eu Jin Park | - |
dc.contributor.googleauthor | Hee Gyung Kang | - |
dc.contributor.googleauthor | Seong Heon Kim | - |
dc.contributor.googleauthor | Hee Yeon Cho | - |
dc.contributor.googleauthor | Jae Il Shin | - |
dc.contributor.googleauthor | Joo Hoon Lee | - |
dc.contributor.googleauthor | Young Seo Park | - |
dc.contributor.googleauthor | Kyo Sun Kim | - |
dc.contributor.googleauthor | Il-Soo Ha | - |
dc.contributor.googleauthor | Hae Il Cheong | - |
dc.identifier.doi | 10.1007/s00467-016-3395-4 | - |
dc.contributor.localId | A02142 | - |
dc.relation.journalcode | J02488 | - |
dc.identifier.eissn | 1432-198X | - |
dc.identifier.pmid | 27300205 | - |
dc.identifier.url | https://link.springer.com/article/10.1007%2Fs00467-016-3395-4 | - |
dc.subject.keyword | Diaphragmatic defect | - |
dc.subject.keyword | Disorder of sexual development | - |
dc.subject.keyword | Malignancy | - |
dc.subject.keyword | Steroid-resistant nephrotic syndrome | - |
dc.subject.keyword | WT1 gene | - |
dc.contributor.alternativeName | Shin, Jae Il | - |
dc.contributor.affiliatedAuthor | Shin, Jae Il | - |
dc.citation.volume | 32 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 81 | - |
dc.citation.endPage | 89 | - |
dc.identifier.bibliographicCitation | PEDIATRIC NEPHROLOGY, Vol.32(1) : 81-89, 2017 | - |
dc.identifier.rimsid | 60897 | - |
dc.type.rims | ART | - |
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