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Phenotypic and genotypic features of Alport syndrome in Chinese children
Wang, F; Ding, J; Guo, SH; Yang, JY
关键词Alport Syndrome Hereditary Nephritis Clinical Features Type Iv Collagen Genes Mutation Detection
刊名PEDIATRIC NEPHROLOGY
2002-12-01
DOI10.1007/s00467-002-0972-5
17期:12页:1013-1020
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Pediatrics ; Urology & Nephrology
研究领域[WOS]Pediatrics ; Urology & Nephrology
关键词[WOS]COL4A5 COLLAGEN GENE ; IV COLLAGEN ; MUTATIONS ; SPECTRUM ; PCR ; FAMILIES ; EXONS ; SSCP ; DNA
英文摘要

Chinese Alport syndrome (AS) was analyzed in 44 unrelated patients who were screened for mutations in the COL4A5 gene by polymerase chain reaction (PCR)single-strand conformation polymorphism analysis or PCR direct sequencing in 30 of the 44 patients. The clinical data showed that all patients had hematuria; 25 of 29 male patients (86%) and 9 of 15 female patients (60%) had proteinuria; 11 of 29 male patients (38%) and 1 of 15 female patients (7%) had nephrotic-level proteinuria; 10 of 21 male patients examined (48%) and I of 12 female patients examined (8%) had hearing abnormalities. Renal function remained normal despite hearing abnormalities, and ocular lesions occurred in 10%. Among 30 of 44 patients who had a family history of end-stage renal disease (ESRD), 80% (24/30) belonged to X-linked juvenile kindreds, and 20% (6/30) patients to adult kindreds. Of the 44 patients, 14 did not have a family history of ESRD, while I I of 14 patients diagnosed with X-linked AS did. DNA analysis revealed four missense mutations, two silent mutations, one substitution, and one in-frame deletion. PCR along with Southern hybridization analysis revealed a large deletion of the paired. COL4A5 and COL4A6 genes. Chinese AS patients were characterized clinically with hematuria, heavy proteinuria, and more juvenile forms. Mutations in these patients were usually small mutations, while a large deletion involving the 5′ part of both COL4A5 and COL4A6 genes was identified.

语种英语
WOS记录号WOS:000180037500008
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被引频次:13[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/400002259/53778
专题北京大学第一临床医学院_儿科
作者单位1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.China Japan Friendship Hosp, Dept Internal Med, Beijing, Peoples R China
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GB/T 7714
Wang, F,Ding, J,Guo, SH,et al. Phenotypic and genotypic features of Alport syndrome in Chinese children[J]. PEDIATRIC NEPHROLOGY,2002,17(12):1013-1020.
APA Wang, F,Ding, J,Guo, SH,&Yang, JY.(2002).Phenotypic and genotypic features of Alport syndrome in Chinese children.PEDIATRIC NEPHROLOGY,17(12),1013-1020.
MLA Wang, F,et al."Phenotypic and genotypic features of Alport syndrome in Chinese children".PEDIATRIC NEPHROLOGY 17.12(2002):1013-1020.
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