A diagnosis or a trap: Exploring the psychosocial and ethical impacts of autosomal dominant polycystic kidney disease diagnosis

Abstract

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 T & uuml;rkiye. 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.