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学科主题: 临床医学
题名:
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children
作者: Yu, ZH; Ding, J; Huang, JP; Yao, Y; Xiao, HJ; Zhang, JJ; Liu, JC; Yang, JY
关键词: Chinese ; NPHS2 ; steroid-resistant nephrotic syndrome
刊名: NEPHROLOGY DIALYSIS TRANSPLANTATION
发表日期: 2005-05-01
DOI: 10.1093/ndt/gfh769
卷: 20, 期:5, 页:902-908
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Transplantation ; Urology & Nephrology
研究领域[WOS]: Transplantation ; Urology & Nephrology
关键词[WOS]: FOCAL-SEGMENTAL GLOMERULOSCLEROSIS ; GLOMERULAR PROTEIN ; PODOCIN MUTATIONS ; FEATURES ; NEPHRIN ; GENE
英文摘要:

Background. Since the identification of the NPHS2 gene, various investigators have demonstrated that an NPHS2 mutation is a frequent cause of sporadic steroid-resistant nephrotic syndrome (SRNS), and occurs in 10.5-28% of children with the syndrome. Idiopathic nephrotic syndrome (INS) is also the most frequent glomerular disease in Chinese children, of which ∼ 20% of cases show steroid resistance. To our knowledge, however, whether or not NPHS2 is the causative gene in Chinese sporadic SRNS has not been established. This study aims to examine mutations in NPHS2 in Chinese children with sporadic SRNS.

Methods. We examined 23 Chinese children with sporadic SRNS for mutations in NPHS2. The mutational analysis of NPHS2 was performed by polymerase chain reaction, denaturing high-performance liquid chromatography and DNA sequencing.

Results. A heterozygous missense mutation of L361P in exon 8 of NPHS2 was detected in one of 23 children with sporadic SRNS, whereas it was not found in 53 controls. We also identified seven NPHS2 polymorphisms, -51G > T, 288C > T, IVS3-46C > T, IVS3-21C > T, IVS7-74G > C, 954T > C and 1038A > G, in some patients and controls. There was no significant difference in the genotypic and allelic frequencies of these polymorphisms between the patients and controls.

Conclusion. The results demonstrate that NPHS2 mutations are also present in Chinese sporadic SRNS. Our investigation supports the necessity of searching for mutations in NPHS2 in Chinese children with sporadic SRNS.

语种: 英语
WOS记录号: WOS:000229083800008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55315
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, First Hos, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
Yu, ZH,Ding, J,Huang, JP,et al. Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children[J]. NEPHROLOGY DIALYSIS TRANSPLANTATION,2005,20(5):902-908.
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