[Autosomal dominant polycystic kidney disease]

Area of Science:

• Nephrology
• Genetics
• Internal Medicine

Background:

• Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, driven by PKD1/PKD2 gene variants.
• ADPKD causes progressive kidney enlargement (TKV) and declining kidney function (eGFR), with systemic effects including liver cysts and cardiovascular risks.
• The Mayo Imaging Classification and PROPKD score aid in identifying rapid disease progression and guiding therapy eligibility.

Purpose of the Study:

• To synthesize the latest KDIGO international recommendations for managing ADPKD.
• To highlight current therapeutic strategies, including disease-modifying treatments like Tolvaptan.
• To outline comprehensive care, including monitoring, lifestyle modifications, and management of extrarenal manifestations.

Main Methods:

• Review and synthesis of recently published KDIGO international guidelines for ADPKD management.
• Inclusion of data on disease progression markers like height-adjusted TKV, age, and eGFR slope.
• Consideration of clinical trial outcomes for disease-modifying therapies such as Tolvaptan.

Main Results:

• Tolvaptan effectively slows kidney enlargement and preserves eGFR in high-risk ADPKD patients.
• Comprehensive management involves blood pressure control, hydration, sodium restriction, and cardiovascular risk reduction.
• Targeted screening for hepatic and neurological complications is recommended for selected patients.

Conclusions:

• Updated KDIGO guidelines provide a framework for optimizing ADPKD care.
• Tolvaptan offers a disease-modifying option requiring careful monitoring for efficacy and side effects.
• Future research focuses on precision medicine, biomarkers, and novel therapies to improve ADPKD outcomes.