Autosomal dominant polycystic kidney disease in Italy

Abstract Background and Hypothesis Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is primarily caused by pathogenic variants in PKD1 and PKD2. Although the natural history of ADPKD has been extensively characterized, real-world studies integrating clinical, imaging, and genetic data remain limited. In 2020, the Italian ADPKD Registry was established to describe disease presentation, identify prognostic factors, and evaluate contemporary management of ADPKD across Italy. Methods Italian ADPKD registry is a nationwide, multicentre observational study involving 23 nephrology and genetic centres. Clinical, imaging, and genetic (PKD1/PKD2) data from adults enrolled through June 2025 were analysed. Prognostic assessment included genotype, Mayo Imaging Classification (MIC), PROPKD score, kidney failure (KF) and longitudinal estimated glomerular filtration rate trajectories. Results Overall, 1771 participants were included (52.8% women; median age 50.3 years). Genetic testing was performed in 864 patients, identifying pathogenic or likely pathogenic variants in 666 (77.1%): 471 (70.7) in PKD1 and 195 (29.3%) in PKD2. Hypertension and chronic kidney pain were found in 75.7% and in 34.3% of patients, respectively. Intracranial aneurysms occurred in 8.7% of patients. Tolvaptan was used in 310/1670 patients (18.6%). KF occurred in 15.7% of patients, at a median age 55.3 years. PKD1 truncating variants, early-onset hypertension, major urological complications, higher MIC and higher PROPKD scores were associated with poorer kidney outcomes. Conclusion The Italian ADPKD Registry provides a large nationwide real-world characterization of contemporary ADPKD care. Established clinical, imaging, and genetic markers were associated with disease severity and kidney outcomes. Imaging-based risk stratification and disease-modifying therapy have been incorporated into routine clinical practice, although their uptake remains incomplete; however, access to genetic testing is heterogeneous across centres. The Registry provides an infrastructure for longitudinal evaluation of disease progression and treatment strategies.

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Journal
Nephrology Dialysis Transplantation
Published
2026-10-28
DOI
https://doi.org/10.1093/ndt/gfag255
Primary Topic
Genetic and Kidney Cyst Diseases
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article
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article

Autosomal dominant polycystic kidney disease in Italy

Filippo Aucella, Giovanni Piscopo, Matteo Rigato, Paolo Monardo et al.
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Nephrology Dialysis Transplantation
Genetic and Kidney Cyst Diseases
article

Autosomal dominant polycystic kidney disease in Italy

Filippo Aucella, Giovanni Piscopo, Matteo Rigato, Paolo Monardo, Maria Alice Ferri, Marco Galliani, Giovanna Capolongo, Domenico Giannese, Marco Guarneri, Laura Econimo, Doloretta Piras, Gaetano La Manna, Miriam Zacchia, Claudia Izzi, Valeria Aiello, Irene Capelli, Vincenzo Bellizzi, Roberta Cortinovis, Lorenzo Di Liberato, Roberta Cerutti, Gaetano Ferrara, Giovanni Stallone, Mario RapanĂ, Riccardo Magistroni, Francesco Scolari, Paola Pontrelli, Silvana Chicca, Federico Alberici, Michela Tamagnone, Gianfranco Savoldi, Nicola Lepori, Barbara Maresca, Giuseppe Castellano, Ighli di Bari, Fiorella Gastaldon, Enrico Fiaccadori, Valeria Cinquina, Chiara Dordoni, Rosa Giunta, Andrea Angioi, Calogero Lino Cirami, Salvatore Melchionda, Silvia Giovanella, Diego Toso, Valentina Corradi, Letizia Zeni, Carmelita Marcantoni, Cinzia Mazza, Giuliana Schilirò, RIRP Collaborative Study Group, Nicolas Delfrate, Francesca Consiglio, Loreto Gesualdo, Dario Altieri
article en

Abstract

Abstract Background and Hypothesis Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney disorder, is primarily caused by pathogenic variants in PKD1 and PKD2. Although the natural history of ADPKD has been extensively characterized, real-world studies integrating clinical, imaging, and genetic data remain limited. In 2020, the Italian ADPKD Registry was established to describe disease presentation, identify prognostic factors, and evaluate contemporary management of ADPKD across Italy. Methods Italian ADPKD registry is a nationwide, multicentre observational study involving 23 nephrology and genetic centres. Clinical, imaging, and genetic (PKD1/PKD2) data from adults enrolled through June 2025 were analysed. Prognostic assessment included genotype, Mayo Imaging Classification (MIC), PROPKD score, kidney failure (KF) and longitudinal estimated glomerular filtration rate trajectories. Results Overall, 1771 participants were included (52.8% women; median age 50.3 years). Genetic testing was performed in 864 patients, identifying pathogenic or likely pathogenic variants in 666 (77.1%): 471 (70.7) in PKD1 and 195 (29.3%) in PKD2. Hypertension and chronic kidney pain were found in 75.7% and in 34.3% of patients, respectively. Intracranial aneurysms occurred in 8.7% of patients. Tolvaptan was used in 310/1670 patients (18.6%). KF occurred in 15.7% of patients, at a median age 55.3 years. PKD1 truncating variants, early-onset hypertension, major urological complications, higher MIC and higher PROPKD scores were associated with poorer kidney outcomes. Conclusion The Italian ADPKD Registry provides a large nationwide real-world characterization of contemporary ADPKD care. Established clinical, imaging, and genetic markers were associated with disease severity and kidney outcomes. Imaging-based risk stratification and disease-modifying therapy have been incorporated into routine clinical practice, although their uptake remains incomplete; however, access to genetic testing is heterogeneous across centres. The Registry provides an infrastructure for longitudinal evaluation of disease progression and treatment strategies.

Nephrology Dialysis Transplantation
University of Foggia (IT), University of Pisa (IT), University of Modena and Reggio Emilia (IT), University of Parma (IT), University of Cagliari (IT), University of Milan (IT), Casa Sollievo della Sofferenza (IT), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), University of Chieti-Pescara (IT), Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT), Azienda Ospedaliero-Universitaria di Modena (IT), Azienda Ospedaliero-Universitaria Careggi (IT), University of Campania "Luigi Vanvitelli" (IT), Ospedale Sandro Pertini (IT), Ospedale di Parma (IT), Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo (IT), Azienda Ospedaliera Universitaria Policlinico "Paolo Giaccone" di Palermo (IT), Ospedale San Bortolo (IT), International Renal Research Institute of Vicenza (IT), Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco" (IT), Azienda Ospedaliera Ospedali Riuniti Papardo Piemonte (IT), Azienda Ospedaliera G. Brotzu (IT), Azienda ULSS 8 Berica (IT), University of Bari Aldo Moro (IT), University of Brescia (IT), University of Palermo (IT), University of Bologna (IT)
Good health and well-being
Openalex Percentile: Top 15%
Genetic and Kidney Cyst Diseases
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