Autosomal dominant polycystic kidney disease: Current perspectives in 2026

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive kidney enlargement and cyst growth leading to progressive loss of kidney function. The two main genes implicated are PKD1 and PKD2; however, pathogenic variants in other less frequent genes can also cause the disease. Diagnosis may be established in various clinical settings, including family screening, the investigation of arterial hypertension, urological events such as hematuria or flank pain, or incidental imaging findings. Diagnostic confirmation relies on targeted imaging studies and/or genetic testing. Extrarenal manifestations include hepatic cysts and an increased risk of intracranial aneurysms (ICA). The disease course varies considerably among individuals: while the median age at kidney failure is around 60years, some patients reach kidney failure before the age of 40 while others never require renal replacement therapy. Nephroprotective measures are central to the management of ADPKD and include blood pressure control with renin-angiotensin-aldosterone system (RAAS) blockade, sodium intake reduction, smoking cessation, maintenance of a healthy body weight, and regular physical activity. Tolvaptan is currently the only approved pharmacological therapy shown to slow disease progression. Several other promising therapies are under investigation to expand therapeutic options for patients with ADPKD.