Italian registry characterizes clinical and genetic features of ADPKD

The Italian ADPKD Registry is a nationwide, multicentre observational study established in 2020. Researchers analyzed clinical, imaging and PKD1/PKD2 genetic data from 1,771 adults enrolled at 23 nephrology and genetics centres through June 2025. Prognostic assessments included genotype, Mayo Imaging Classification, PROPKD score, kidney failure and longitudinal estimated glomerular filtration rate trajectories.

Participants had a median age of 50.3 years, and 52.8% were women. Genetic testing was performed in 864 patients; 666 (77.1%) had pathogenic or likely pathogenic variants, most commonly in PKD1. Hypertension affected 75.7%, chronic kidney pain 34.3%, and intracranial aneurysms 8.7%. Kidney failure was reported in 15.7%, at a median age of 55.3 years. PKD1 truncating variants, early-onset hypertension, major urological complications, higher imaging classification and higher PROPKD scores were associated with poorer kidney outcomes. Tolvaptan use was recorded in 310 of 1,670 patients (18.6%).

The registry offers a large real-world description of ADPKD care in Italy. The authors report that genetic-testing access is heterogeneous and uptake of risk stratification and disease-modifying treatment remains incomplete. As an observational registry, the findings describe associations and care patterns; they do not establish treatment effects.