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诊断还是陷阱:探索常染色体显性多囊肾病诊断的心理社会和伦理影响

A Diagnosis or a Trap: Exploring the Psychosocial and Ethical Impacts of Autosomal Dominant Polycystic Kidney Disease Diagnosis.

作者信息

Türk Mert, Gül Cuma Bülent

机构信息

Department of Internal Medicine, Bursa Yuksek Ihtisas Training and Research Hospital, Bursa Uludag University, 16350 Bursa, Türkiye.

Department of Nephrology, Uludag University Medical School, 16059 Bursa, Türkiye.

出版信息

Healthcare (Basel). 2025 Jun 2;13(11):1316. doi: 10.3390/healthcare13111316.

Abstract

: This study aimed to explore the emotional, social, and ethical dimensions of early or presymptomatic diagnosis in individuals with Autosomal Dominant Polycystic Kidney Disease (ADPKD). : A total of 118 participants diagnosed with ADPKD were recruited from a tertiary nephrology center in Türkiye. Data were collected via a 22-item structured and open-ended questionnaire. Chi-square and non-parametric statistical tests were used to assess associations between awareness, attitudes, and demographic variables. : Although only 10% of participants reported direct disadvantages from their diagnosis, such as difficulties in employment, insurance, or relationships, many voiced concerns about stigma and long-term uncertainties. Genetic awareness was significantly associated with increased likelihood of recommending family screening ( = 0.022), and higher educational attainment correlated with greater disease knowledge ( < 0.01). Despite emotional burden, 71.2% of participants reported adopting lifestyle modifications, and 79.6% expressed willingness to screen their children, though often with ethical hesitation. : While early diagnosis of ADPKD may offer clinical benefits, it also introduces complex psychosocial and ethical dilemmas. These findings highlight the importance of integrating patient-centered counseling, clear communication strategies, and supportive policies to ensure informed decision making and mitigate potential harms.

摘要

本研究旨在探讨常染色体显性多囊肾病(ADPKD)患者早期或症状前诊断的情感、社会和伦理层面。从土耳其一家三级肾脏病中心招募了总共118名被诊断为ADPKD的参与者。通过一份包含22个条目的结构化开放式问卷收集数据。使用卡方检验和非参数统计检验来评估认知、态度与人口统计学变量之间的关联。尽管只有10%的参与者报告了诊断带来的直接不利影响,如就业、保险或人际关系方面的困难,但许多人表达了对污名化和长期不确定性的担忧。基因认知与推荐家族筛查的可能性增加显著相关(P = 0.022),而较高的教育程度与更多的疾病知识相关(P < 0.01)。尽管存在情感负担,但71.2%的参与者报告采取了生活方式改变,79.6%的人表示愿意为子女进行筛查,不过往往存在伦理上的犹豫。虽然ADPKD的早期诊断可能带来临床益处,但它也带来了复杂的心理社会和伦理困境。这些发现凸显了整合以患者为中心的咨询、清晰的沟通策略和支持性政策以确保明智决策并减轻潜在危害的重要性。

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