Patient-reported diagnostic pathways and disclosure experiences in autosomal dominant polycystic kidney disease (ADPKD)

Abstract Background and objectives Diagnostic disclosure practices for autosomal dominant polycystic kidney disease (ADPKD) vary and may influence patient experience and linkage to nephrology care. We characterized patient-reported diagnostic pathways, perceived timing, and disclosure experiences in the PK-DIAG survey. Design, setting, participants, and measurements Cross-sectional web-based survey in France (February 2019–August 2024) among adults with self-reported ADPKD, disseminated via patient organizations. Primary outcomes were poor tact (tact score 0–1 on a 0–5 scale) and very negative diagnostic disclosure experience (overall score 0–1 on a 0–5 scale). Multivariable logistic regression used complete-case analyses. Results Among 1,021 respondents, diagnosis was commonly disclosed outside nephrology care; 49% reported disclosure by a radiologist. Poor tact was reported by 25% and was associated with radiologist (vs nephrologist) disclosure (adjusted odds ratio 2.50; 95% confidence interval 1.57–3.98). Very negative experience was reported by 29% and was associated with poor tact (adjusted odds ratio 4.55; 95% confidence interval 2.90–7.12) and information perceived as insufficient/unclear/inaccurate (adjusted odds ratio 2.52; 95% confidence interval 1.53–4.15). Most participants perceived diagnosis as timely (67%), while 18% perceived it as too early and 15% as too late. Distress (36%) or unmet psychological needs (40%) in the immediate post-disclosure period was common. Conclusions ADPKD diagnostic disclosure often occurred outside dedicated nephrology consultations and was frequently associated with poor tact and inadequate information. These findings support structured, guideline-aligned disclosure pathways incorporating timely counseling, psychosocial support, and rapid linkage to nephrology care. Key Points In PK-DIAG, initial disclosure of ADPKD frequently occurred outside nephrology care, most often by radiologists in radiology settings. About one quarter of respondents reported poor tact and 29% reported a very negative overall diagnostic disclosure experience. Poor tact and information perceived as insufficient/unclear/inaccurate were strongly associated with a very negative diagnostic experience.