Diagnostic disclosure, communication quality, and patient experience in autosomal dominant polycystic kidney disease

In autosomal dominant polycystic kidney disease (ADPKD), the age and circumstances of diagnosis, the quality of initial disclosure, and how patients experience it have not been systematically described.

Cross-sectional web-based survey in France (2019-2024) of adults with self-reported ADPKD recruited via patient organizations. Participants reported diagnostic context, who first disclosed the diagnosis, perceived information quality, and rated tact and overall experience on 0-5 scales. Primary outcomes were poor tact and very negative diagnostic experience (scores 0-1). Multivariable models included prespecified covariates tailored to each outcome.

Among 1021 respondents, median age at diagnosis was 26 (IQR 18-36) years. Diagnosis followed family screening (40%), symptom-driven work-up (27%), or incidental findings (21%), and occurred earlier in women and after parent-initiated screening. Initial disclosure was most often by radiologists (49%) rather than nephrologists (22%). Poor tact, reported by 25%, was associated with radiologist versus nephrologist disclosure [adjusted odds ratios (aOR) 2.50, 95% confidence interval (CI) 1.57-3.98]. Very negative experience, reported by 29%, was associated with poor tact (aOR 4.55, 95% CI 2.90-7.12) and poor information (aOR 2.52, 95% CI 1.53-4.15). Delayed or absent nephrology follow-up was reported by 40% and was associated with reporting no post-disclosure resolution (aOR 4.34, 95% CI 3.10-6.09).

ADPKD was often disclosed outside nephrology, and patients frequently reported poor tact, inadequate information, and very negative diagnostic experiences. These findings identify communication quality and timely nephrology follow-up as potential targets for improving the ADPKD diagnostic experience.