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学科主题: 临床医学
题名:
WT1 Gene Mutations in Chinese Children With Early Onset Nephrotic Syndrome
作者: Li, Jianguo; Ding, Jie; Zhao, Dan; Yu, Zihua; Fan, Qingfeng; Chen, Yan; Zhang, Hongwen; Zhong, Xuhui; Huang, Jianping; Yao, Yong; Xiao, Hujie
刊名: PEDIATRIC RESEARCH
发表日期: 2010-08-01
卷: 68, 期:2, 页:155-158
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Pediatrics
研究领域[WOS]: Pediatrics
关键词[WOS]: FOCAL SEGMENTAL GLOMERULOSCLEROSIS ; STEROID-RESISTANT ; GLOMERULAR PROTEIN ; FRASIER-SYNDROME ; NPHS2 MUTATIONS ; PREVALENCE ; ACTN4
英文摘要:

In Chinese children with steroid-resistant nephrotic syndrome (SRNS), it was reported that NPHS2 mutation was detected in 4.3%, which was lower than that in Caucasians (10-30%). However, there were no data on WT1 mutation in nephrotic syndrome (NS), especially in early-onset NS of Chinese children. Thus, a study, which enrolled 36 Chinese children with early-onset (before 3 y old) NS and steroid resistance if failing steroid therapy (early-group), was conducted. As control, 35 children with SRNS and with disease onset age after 3 y old were also analyzed (control-group). WT1 gene was examined by PCR and direct sequencing. The result showed that in the early-group 6/36 (16.7%) were detected with WT1 mutations. Further analysis according to different onset age revealed that the mutation detection rates of WT1 were 26.3% (5/19), 6.3% (1/16), and 0 (0/1) in children younger than 1 y, 1-2 y, and 2-3 y, respectively. In control-group, no WT1 (0/35) mutation was detected. WT1 mutation combined with NPHS2 variant was detected in a girl. In conclusion, WT1 mutations seemed more common in Chinese children with early-onset NS. (Pediatr Res 68: 155-158, 2010)

语种: 英语
所属项目编号: 30830105 ; 30672259 ; 30801250 ; 7072080 ; 2006BA105A07
项目资助者: National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation ; National 11th Five-year Scientific and Technical Supporting Programs
WOS记录号: WOS:000280211900013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64434
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Li, Jianguo,Ding, Jie,Zhao, Dan,et al. WT1 Gene Mutations in Chinese Children With Early Onset Nephrotic Syndrome[J]. PEDIATRIC RESEARCH,2010,68(2):155-158.
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