IR@PKUHSC  > 北京大学第一临床医学院  > 儿科
学科主题临床医学
Phenotype and genotype of Dent′s disease in three Chinese boys
Li, Peng; Huang, Jian-Ping
关键词Chinese Clcn5 Dent&Prime s Disease Mutation
刊名NEPHROLOGY
2009-03-01
DOI10.1111/j.1440-1797.2008.01057.x
14期:2页:139-142
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
研究领域[WOS]Urology & Nephrology
关键词[WOS]GENETIC-HETEROGENEITY ; MUTATIONS ; CLC-5 ; CELLS ; CLCN5
英文摘要

Aim: Dent′s disease represents a group of hereditary renal tubular disorders mainly characterized by hypercalciuria, nephrocalcinosis and low molecular weight proteinuria. The majority of patients with Dent′s disease were found to carry CLCN5 gene mutations, whereas a small fraction of patients carry OCRL1 gene mutations. Up to date, over 100 patients with Dent′s disease have been reported to carry CLCN5 gene mutations, but none in Chinese patients. The purpose of this study was to investigate the phenotypes and genotypes of three Chinese boys with Dent′s disease.

Methods: Three patients from three unrelated families were studied. Genomic DNA was extracted from peripheral white blood cells using a simple salting out procedure after informed consent. Thirteen pairs of primers were used to amplify all coding exons and exon-intron boundaries of the CLCN5 gene by polymerase chain reaction (PCR). All PCR products were sequenced directly on an autosequencer.

Results: Low molecular weight proteinuria and hypercalciuria were found in all patients, nephrocalcinosis in two patients and hypophosphataemia in two patients. Three mutations of the CLCN5 gene were revealed, including R467X, L594fsX595 and R637X. Each mutation was inherited from maternal DNA, respectively. The mutation L594fsX595 was never reported before.

Conclusion: Low molecular weight proteinuria and hypercalciuria were the main clinical features of the three Chinese boys with Dent′s disease. Our study was the first to demonstrate CLCN5 gene mutations in Chinese patients with Dent′s disease and we reported a novel mutation.

语种英语
WOS记录号WOS:000264785200001
引用统计
被引频次:6[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54874
专题北京大学第一临床医学院_儿科
北京大学精神卫生研究所_精神科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Li, Peng,Huang, Jian-Ping. Phenotype and genotype of Dent′s disease in three Chinese boys[J]. NEPHROLOGY,2009,14(2):139-142.
APA Li, Peng,&Huang, Jian-Ping.(2009).Phenotype and genotype of Dent′s disease in three Chinese boys.NEPHROLOGY,14(2),139-142.
MLA Li, Peng,et al."Phenotype and genotype of Dent′s disease in three Chinese boys".NEPHROLOGY 14.2(2009):139-142.
条目包含的文件
条目无相关文件。
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Li, Peng]的文章
[Huang, Jian-Ping]的文章
百度学术
百度学术中相似的文章
[Li, Peng]的文章
[Huang, Jian-Ping]的文章
必应学术
必应学术中相似的文章
[Li, Peng]的文章
[Huang, Jian-Ping]的文章
相关权益政策
暂无数据
收藏/分享
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。