What is the evaluation for Autosomal Dominant Polycystic Kidney Disease (ADPKD)?

From the Guidelines

Evaluation of polycystic kidney disease (PKD) should begin with a comprehensive medical history, physical examination, and family history assessment, followed by renal ultrasound, and potentially more detailed imaging with contrast-enhanced CT or MRI, as well as laboratory tests including serum creatinine, estimated glomerular filtration rate (eGFR), urinalysis, and urine albumin-to-creatinine ratio, with genetic testing for PKD1 and PKD2 mutations to confirm diagnosis and guide family planning, as recommended by the KDIGO 2025 clinical practice guideline 1.

Initial Evaluation

The initial evaluation of PKD should include:

• A comprehensive medical history to identify potential symptoms and family history of the disease
• Physical examination to assess for signs of kidney disease and extrarenal manifestations
• Family history assessment to determine the likelihood of hereditary transmission
• Renal ultrasound to detect cysts larger than 1-2 cm
• Laboratory tests, including:
  • Serum creatinine to evaluate kidney function
  • Estimated glomerular filtration rate (eGFR) to assess kidney function
  • Urinalysis to detect proteinuria and hematuria
  • Urine albumin-to-creatinine ratio to evaluate proteinuria

Imaging and Genetic Testing

More detailed imaging with contrast-enhanced CT or MRI may be necessary to better characterize the cysts and assess kidney size and function. Genetic testing for PKD1 and PKD2 mutations can confirm the diagnosis and help with family planning, as recommended by the KDIGO 2025 clinical practice guideline 1. The Mayo Imaging Classification (MIC) can be used to predict future decline in kidney function and the timing of kidney failure, as described in the KDIGO 2025 clinical practice guideline 1.

Extrarenal Manifestations

Additional evaluations should include screening for extrarenal manifestations, such as:

• Liver cysts, which are present in >80% of people with ADPKD by age 30 years, as reported in the KDIGO 2025 clinical practice guideline 1
• Intracranial aneurysms, particularly in those with a family history, with a prevalence of 12.9% in the ADPKD population, as reported in the KDIGO 2025 clinical practice guideline 1
• Heart valve abnormalities, such as mitral valve prolapse and regurgitation, which are usually asymptomatic, as reported in the KDIGO 2025 clinical practice guideline 1
• Abdominal hernias, which are common in people with ADPKD, as reported in the KDIGO 2025 clinical practice guideline 1

Follow-up and Management

Regular follow-up is recommended every 6-12 months to monitor disease progression, adjust treatments, and manage complications like urinary tract infections, kidney stones, and chronic pain, as recommended by the KDIGO 2025 clinical practice guideline 1. Blood pressure monitoring is essential, as hypertension is common and can accelerate disease progression, as reported in the KDIGO 2025 clinical practice guideline 1.

From the FDA Drug Label

Tolvaptan tablets are contraindicated in the following conditions: • Patients with autosomal dominant polycystic kidney disease (ADPKD) outside of FDA-approved REMS [see Warnings and Precautions ( 5.2)]

5.2 Liver Injury Tolvaptan can cause serious and potentially fatal liver injury. In placebo-controlled studies and an open-label extension study of chronically administered tolvaptan in patients with ADPKD, cases of serious liver injury attributed to tolvaptan, generally occurring during the first 18 months of therapy, were observed

The evaluation of polycystic kidney disease should consider the potential risks associated with tolvaptan therapy, including liver injury.

• Tolvaptan is contraindicated in patients with ADPKD outside of the FDA-approved REMS.
• Patients with ADPKD should be monitored for signs of liver injury, including fatigue, anorexia, right upper abdominal discomfort, dark urine, or jaundice.
• The use of tolvaptan in patients with ADPKD requires careful consideration of the potential benefits and risks, and should only be undertaken within the context of the FDA-approved REMS 2.

From the Research

Evaluation of Polycystic Kidney Disease

Polycystic kidney disease (PKD) is a hereditary renal disease that affects more than 13 million people worldwide 3. The disease is characterized by the growth of cysts in both kidneys, leading to renal function deterioration and eventually end-stage kidney failure.

Diagnosis and Monitoring

The diagnosis and monitoring of PKD involve various methods, including:

• Measured glomerular filtration rate (GFR) using iothalamate clearance 4
• Serum creatinine (SCr)-based GFR estimates 4
• Creatinine clearance 4
• Estimated GFR (eGFR) using the Modification of Diet in Renal Disease (MDRD) and Cockcroft-Gault equations 4

Predictors of Disease Progression

Several factors have been identified as predictors of disease progression in PKD, including:

• Hypertension, which is associated with a decline in renal function 4
• Kidney volume, with each doubling of kidney volume at baseline associated with a decline in renal function 4
• Urinary renin-angiotensin markers, which are higher in PKD patients compared to non-PKD chronic kidney disease patients 5

Management and Treatment

The management and treatment of PKD involve:

• Conservative management, including blood pressure control, low sodium diet, adequate water intake, and weight control 3
• Disease-modifying drugs, such as Tolvaptan, which can inhibit cyst growth and delay renal failure 3
• Monitoring of renal function and adjustment of treatment plans as needed 3, 4