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

Türk M., GÜL C. B.

Healthcare (Switzerland), cilt.13, sa.11, 2025 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 11
  • Basım Tarihi: 2025
  • Doi Numarası: 10.3390/healthcare13111316
  • Dergi Adı: Healthcare (Switzerland)
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Social Sciences Citation Index (SSCI), Scopus, CINAHL, Directory of Open Access Journals
  • Anahtar Kelimeler: autosomal dominant polycystic kidney disease, genetic screening, health literacy, patient awareness, psychosocial impact, sociocultural factors
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Objective: 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). Methods: 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. Results: 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 (p = 0.022), and higher educational attainment correlated with greater disease knowledge (p < 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. Conclusions: 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.