• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

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.

DOI:10.3390/healthcare13111316
PMID:40508929
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12154539/
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。

相似文献

1
A Diagnosis or a Trap: Exploring the Psychosocial and Ethical Impacts of Autosomal Dominant Polycystic Kidney Disease Diagnosis.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
Healthcare (Basel). 2025 Jun 2;13(11):1316. doi: 10.3390/healthcare13111316.
2
'A sword of Damocles': patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study.“达摩克利斯之剑”:常染色体显性遗传多囊肾病(ADPKD)症状前检测的患者和照护者信念、态度和观点:一项焦点小组研究。
BMJ Open. 2020 Oct 10;10(10):e038005. doi: 10.1136/bmjopen-2020-038005.
3
Increased psychosocial risk, depression and reduced quality of life living with autosomal dominant polycystic kidney disease.常染色体显性多囊肾病患者的心理社会风险增加、抑郁及生活质量下降。
Nephrol Dial Transplant. 2016 Jul;31(7):1130-40. doi: 10.1093/ndt/gfv299. Epub 2015 Aug 12.
4
Pain and Health-Related Quality of Life in Autosomal Dominant Polycystic Kidney Disease: Results from a National Patient-Powered Registry.常染色体显性多囊肾病中的疼痛与健康相关生活质量:一项全国患者驱动注册研究的结果
Kidney Med. 2024 Mar 24;6(5):100813. doi: 10.1016/j.xkme.2024.100813. eCollection 2024 May.
5
Patient-Reported Outcomes Measures, Polycystic Kidney Disease Burden, and Outcomes in Autosomal Dominant Polycystic Kidney Disease.患者报告的结局指标、多囊肾病负担及常染色体显性多囊肾病的结局
Kidney Med. 2023 Nov 27;6(1):100755. doi: 10.1016/j.xkme.2023.100755. eCollection 2024 Jan.
6
Participant Perceptions in a Long-term Clinical Trial of Autosomal Dominant Polycystic Kidney Disease.常染色体显性多囊肾病长期临床试验中的参与者认知
Kidney Med. 2023 Jun 29;5(9):100691. doi: 10.1016/j.xkme.2023.100691. eCollection 2023 Sep.
7
Polycystic Kidney Disease, Autosomal Dominant常染色体显性多囊肾病
8
The Clinical and Mutational Spectrum of 69 Turkish Children with Autosomal Recessive or Autosomal Dominant Polycystic Kidney Disease: A Multicenter Retrospective Cohort Study.69 例常染色体隐性或常染色体显性遗传性多囊肾病土耳其儿童的临床和突变谱:一项多中心回顾性队列研究。
Nephron. 2024;148(5):319-332. doi: 10.1159/000528258. Epub 2023 Jan 19.
9
The screening, diagnosis, and management of patients with autosomal dominant polycystic kidney disease: A national consensus statement from Taiwan.台湾多囊肾病:常染色体显性遗传型之筛检、诊断与处置:全国共识声明。
Nephrology (Carlton). 2024 May;29(5):245-258. doi: 10.1111/nep.14287. Epub 2024 Mar 10.
10
Caregiver Burden of Autosomal Dominant Polycystic Kidney Disease: A Qualitative Study.常染色体显性多囊肾病患者照料者的负担:一项定性研究。
Kidney Med. 2022 Dec 14;5(2):100587. doi: 10.1016/j.xkme.2022.100587. eCollection 2023 Feb.

本文引用的文献

1
KDIGO 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD).KDIGO 2025常染色体显性多囊肾病(ADPKD)评估、管理及治疗临床实践指南。
Kidney Int. 2025 Feb;107(2S):S1-S239. doi: 10.1016/j.kint.2024.07.009.
2
Treatment of Autosomal-Dominant Polycystic Kidney Disease.常染色体显性多囊肾病的治疗
Am J Kidney Dis. 2025 Apr;85(4):491-500. doi: 10.1053/j.ajkd.2024.08.008. Epub 2024 Oct 16.
3
The Impact of Autosomal Dominant Polycystic Kidney Disease in Children: A Nephrological, Nutritional, and Psychological Point of View.常染色体显性多囊肾病对儿童的影响:从肾脏病学、营养学和心理学角度分析
Biomedicines. 2024 Aug 12;12(8):1823. doi: 10.3390/biomedicines12081823.
4
Mental Health and Autosomal Dominant Polycystic Kidney Disease: A Narrative Review.精神健康与常染色体显性遗传性多囊肾病:叙述性综述。
Kidney360. 2024 Aug 1;5(8):1200-1206. doi: 10.34067/KID.0000000000000504. Epub 2024 Jul 8.
5
Relationship between disease awareness and severity of kidney disease in autosomal dominant polycystic kidney disease patients.常染色体显性多囊肾病患者疾病认知与肾病严重程度的关系。
Ther Apher Dial. 2023 Feb;27(1):117-122. doi: 10.1111/1744-9987.13860. Epub 2022 May 10.
6
'A sword of Damocles': patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study.“达摩克利斯之剑”:常染色体显性遗传多囊肾病(ADPKD)症状前检测的患者和照护者信念、态度和观点:一项焦点小组研究。
BMJ Open. 2020 Oct 10;10(10):e038005. doi: 10.1136/bmjopen-2020-038005.
7
ADPKD-what the radiologist should know.常染色体显性多囊肾病——放射科医生应了解的知识
Br J Radiol. 2019 Jun;92(1098):20190078. doi: 10.1259/bjr.20190078. Epub 2019 Apr 30.
8
A painful inheritance-patient perspectives on living with polycystic kidney disease: thematic synthesis of qualitative research.痛苦的遗产——多囊肾病患者的生活视角:定性研究的主题综合分析
Nephrol Dial Transplant. 2015 May;30(5):790-800. doi: 10.1093/ndt/gfv010. Epub 2015 Jan 29.
9
Public attitudes towards genetic testing revisited: comparing opinions between 2002 and 2010.重新审视公众对基因检测的态度:比较 2002 年和 2010 年的意见。
Eur J Hum Genet. 2013 Aug;21(8):793-9. doi: 10.1038/ejhg.2012.271. Epub 2012 Dec 19.
10
Psychonephrology: psychological aspects in autosomal dominant polycystic kidney disease.心理肾病学:常染色体显性遗传多囊肾病的心理方面。
Nefrologia. 2011;31(6):716-22. doi: 10.3265/Nefrologia.pre2011.Jul.10847.