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学科主题临床医学
Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China
Zhang, Hongwen; Ding, Jie; Wang, Fang; Yu, Lixia
关键词Alport Syndrome Attitude Genetic Diagnosis Prenatal Diagnosis
刊名NEPHROLOGY
2012-05-01
DOI10.1111/j.1440-1797.2012.01562.x
17期:4页:398-401
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Urology & Nephrology
关键词[WOS]AUTOSOMAL-DOMINANT ; MUTATIONS ; DISEASE ; DEAFNESS ; CHILDREN ; SKIN
英文摘要

Aim: Alport syndrome (AS) is a progressive renal disease characterized by hematuria and progressive renal failure. X-linked dominant AS (XLAS) is the predominant inheritance form caused by mutations in COL4A5 gene. Attitudes toward genetic diagnosis and prenatal diagnosis for Chinese AS families were investigated. Attitudes toward genetic diagnosis and prenatal diagnosis in Chinese XLAS families were evaluated in the current study.

Methods: A total of 160 XLAS patients and their 126 healthy family members in China were interviewed. After providing background knowledge counselling and education on AS, their attitudes toward genetic diagnosis and prenatal diagnosis were evaluated by multiple-choice questionnaire.

Results: Majority of the respondents cared mostly about the prognosis and treatment effects of AS (89.9% vs 81.1%) since they considered that the worst outcome of XALS was renal insufficiency (92.3%). Of all the interviewees, 99.3% were interested in genetic research for the discovery of better treatments and more appropriate diagnostic tools (positive attitudes) (89.5% vs 73.2%). About 80% of the participants would accept prenatal testing and subsequent termination of pregnancy in cases of affected foetuses (boys: 86.8% and girls: 74.6%, respectively).

Conclusion: Most Chinese XLAS families show positive attitudes and desire new discoveries in treatment and diagnosis. About 80% of respondents would approve prenatal testing with a desire for selective termination of pregnancy rather than predicting the health of a future child.

语种英语
所属项目编号30801252
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000305578600012
Citation statistics
Cited Times:1[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55414
Collection北京大学第一临床医学院_儿科
作者单位Peking Univ, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China
Recommended Citation
GB/T 7714
Zhang, Hongwen,Ding, Jie,Wang, Fang,et al. Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China[J]. NEPHROLOGY,2012,17(4):398-401.
APA Zhang, Hongwen,Ding, Jie,Wang, Fang,&Yu, Lixia.(2012).Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China.NEPHROLOGY,17(4),398-401.
MLA Zhang, Hongwen,et al."Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China".NEPHROLOGY 17.4(2012):398-401.
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