Prevalence of extrarenal findings in autosomal dominant polycystic kidney disease

Background and aim: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder, frequently associated with renal and extrarenal manifestations. The aim of this study was to evaluate the prevalence and spectrum of extrarenal findings in ADPKD patients over long-term follow-up, and to assess their relationship with kidney function. Methods: We conducted a retrospective cross-sectional study of 97 ADPKD patients followed at Turgut Özal Medical Center between 2000 and 2025. Demographic, clinical, laboratory, and imaging data were reviewed, including renal cyst characteristics, hepatic and pancreatic cysts, hernias, diverticulosis, valvular abnormalities, renal stones, cerebral aneurysms, and malignancies. Echocardiographic, endoscopic, and neurosurgical records were integrated when available. Results: The mean age was 53 years, and 61.9% were female. Hepatic cysts were the most prevalent extrarenal manifestation (82.5%), followed by valvular abnormalities (mitral regurgitation 82.8%, tricuspid regurgitation 70.7%, aortic regurgitation 39.7%). Renal stones were found in 34.0% of patients, pancreatic cysts in 6.2%, hernias in 7.2%, diverticulosis in 3.5%, malignancy in 8.2%, and cerebral aneurysms in 2 patients who underwent targeted imaging. Renal function correlated weakly but significantly with maximum cyst size (ρ = -0.23, p = 0.034). Median survival after first presentation was 8.6 years, with an estimated 10-year survival of 89%. Conclusion: This study highlights the systemic nature of ADPKD in a Turkish cohort, with hepatic cysts, valvular disease, and renal stones emerging as the most common extrarenal findings. Less frequent but clinically relevant features such as pancreatic cysts, hernias, diverticulosis, malignancies, and cerebral aneurysms underscore disease heterogeneity and support the need for multidisciplinary management and prospective studies integrating genetic and imaging data.