Autosomal dominant polycystic kidney disease: Current perspectives in 2026

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, characterized by progressive kidney enlargement and cyst growth.
• Pathogenic variants in PKD1 and PKD2 are the primary genetic causes, though other genes can be implicated.
• Diagnosis occurs through family screening, hypertension investigation, urological events, or incidental findings, confirmed by imaging and/or genetic testing.

Purpose of the Study:

• To provide a comprehensive overview of ADPKD, including its genetic basis, diagnostic approaches, clinical manifestations, and management strategies.
• To highlight the variability in disease course and the importance of nephroprotective measures.
• To discuss current therapeutic options and emerging treatments for ADPKD.

Main Methods:

• Review of current literature on ADPKD genetics, diagnosis, clinical course, and management.
• Analysis of diagnostic criteria, including imaging studies and genetic testing.
• Evaluation of nephroprotective strategies and pharmacological interventions, including Tolvaptan.

Main Results:

• ADPKD involves progressive kidney enlargement and cyst growth, leading to kidney failure.
• Extrarenal manifestations include hepatic cysts and increased risk of intracranial aneurysms (ICA).
• Disease progression varies significantly, with a median age of kidney failure around 60 years.

Conclusions:

• Effective management of ADPKD involves blood pressure control, RAAS blockade, reduced sodium intake, smoking cessation, weight management, and physical activity.
• Tolvaptan is the only approved therapy to slow ADPKD progression, with other treatments under investigation.
• Early diagnosis and comprehensive management are crucial for improving outcomes in ADPKD patients.