[Autosomal dominant polycystic kidney disease]

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disorder. It is primarily caused by pathogenic variants in PKD1 and PKD2 genes. The natural history of ADPKD is characterized by progressive enlargement of the total kidney volume (TKV) due to continuous cyst development and expansion, ultimately resulting in a gradual decline of glomerular filtration rate (eGFR). ADPKD is a systemic disease that may involve hepatic cystic disease, intracranial aneurysms, and increased cardiovascular risk. The Mayo Imaging Classification, based on height-adjusted TKV and age, is the primary tool for identifying patients with rapidly progressive disease. It may be complemented by the PROPKD score (including the genetic diagnosis) and the longitudinal eGFR slope. These elements guide eligibility for disease-modifying therapy. Tolvaptan has demonstrated efficacy in slowing kidney enlargement and preserving eGFR in high-risk patients. Its use requires careful monitoring of liver enzymes and management of aquaretic side-effects. Comprehensive care includes strict blood pressure control, adequate hydration, dietary sodium restriction, cardiovascular risk reduction, and treatment of cyst-related complications. Extrarenal manifestations, particularly hepatic and neurological, require targeted screening in selected patients. Future perspectives focus on precision medicine, new biomarkers, innovative targeted therapies, and genomic approaches aiming to modify disease trajectory more effectively. This article provides an updated synthesis of the recently published KDIGO international recommendations for the management of ADPKD.