Pajari H, Koskimies O, Muhonen T, Kääriäinen H
Hospital for Children and Adolescents, University of Helsinki, Finland.
Pediatr Nephrol. 1999 Aug;13(6):471-6. doi: 10.1007/s004670050640.
We evaluated the burden of Alport syndrome (AS) and the attitudes towards gene testing in patients with AS and their healthy family members from 37 families using a multiple-choice questionnaire. We also evaluated how the disease affected the decision to have children and the information received about the syndrome. A total of 53 individuals responded to this questionnaire. The risk of renal insufficiency and the uncertainty of the prognosis were considered the worst components of AS. Many of the respondents felt that children should be informed about AS as soon as they start asking (45%), preferably by a parent (74%). Almost all of the respondents (96%) had a positive attitude towards genetic research, which in the opinion of the majority should be aimed at better treatment and diagnosis of the disease rather than developing methods for prenatal diagnosis (89% and 75% versus 43%). AS seems to be well tolerated; 28% and 19% of the respondents found abortion acceptable in cases of an affected male and female fetus, respectively. Our study indicates a desire for prenatal tests in order to predict the health of a future child rather than for selective abortion.
我们使用多项选择题问卷，对来自37个家庭的Alport综合征（AS）患者及其健康家庭成员中AS的负担以及对基因检测的态度进行了评估。我们还评估了该疾病如何影响生育决定以及所获得的关于该综合征的信息。共有53人回答了这份问卷。肾功能不全的风险和预后的不确定性被认为是AS最糟糕的方面。许多受访者认为，孩子一开始询问就应该告知他们AS（45%），最好由父母告知（74%）。几乎所有受访者（96%）对基因研究持积极态度，在大多数人看来，基因研究应旨在更好地治疗和诊断疾病，而不是开发产前诊断方法（分别为89%和75%，而支持产前诊断方法的为43%）。AS似乎耐受性良好；分别有28%和19%的受访者认为，在男性和女性胎儿患病的情况下堕胎是可以接受的。我们的研究表明，人们希望进行产前检测是为了预测未来孩子的健康状况，而不是为了选择性堕胎。
