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学科主题: 临床医学
题名:
Phenotypic and genotypic features of Alport syndrome in Chinese children
作者: 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
发表日期: 2002-12-01
DOI: 10.1007/s00467-002-0972-5
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53778
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: 1.Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
2.China Japan Friendship Hosp, Dept Internal Med, Beijing, Peoples R China

Recommended Citation:
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.
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