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学科主题: 临床医学
题名:
Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China
作者: Zhang, Hongwen; Ding, Jie; Wang, Fang; Yu, Lixia
关键词: Alport syndrome ; attitude ; genetic diagnosis ; prenatal diagnosis
刊名: NEPHROLOGY
发表日期: 2012-05-01
DOI: 10.1111/j.1440-1797.2012.01562.x
卷: 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
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
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000305578600012
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55414
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, Hosp 1, Dept Pediat, Beijing 100034, Peoples R China

Recommended Citation:
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.
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