From the Guidelines
Autosomal dominant polycystic kidney disease (ADPKD) is diagnosed using several established criteria, with the most recent and highest quality evidence recommending abdominal imaging by ultrasound to screen adults at risk, and age-specific numbers of cysts to diagnose or exclude ADPKD in people with a positive family history, as outlined in the KDIGO 2025 clinical practice guideline 1. The diagnostic criteria for ADPKD vary based on age and family history.
- For individuals aged 15-39 with a positive family history, at least 3 cysts (unilateral or bilateral) are required for diagnosis.
- For those aged 40-59, at least 2 cysts in each kidney are needed, while individuals 60 or older require at least 4 cysts in each kidney.
- In patients without a family history, more stringent criteria apply, typically requiring at least 10 cysts in each kidney. Genetic testing for mutations in PKD1 or PKD2 genes provides definitive diagnosis and is particularly valuable in younger patients with few cysts, those with negative family history, or when imaging results are equivocal, as stated in the KDIGO 2025 guideline 1. Additional diagnostic tools include MRI and CT scans, which can detect smaller cysts than ultrasound, and are recommended for use in certain cases, such as when imaging results are equivocal or when additional prognostic information is requested 1. The KDIGO 2025 guideline also emphasizes the importance of counseling and shared decision-making with individuals at risk of ADPKD, taking into account their values and preferences, and providing appropriate information about the benefits and risks of screening and diagnosis 1.
From the Research
Diagnostic Criteria for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
The diagnostic criteria for ADPKD are based on renal ultrasonography and molecular genetic testing. The following are the diagnostic criteria:
- For at-risk subjects aged 15-39 years, the presence of three or more renal cysts is sufficient for the diagnosis of ADPKD 2, 3
- For at-risk subjects aged 40-59 years, the presence of two or more cysts in each kidney is sufficient for the diagnosis of ADPKD 2, 3
- For at-risk subjects aged 60 years or older, the presence of four or more cysts in each kidney is required for the diagnosis of ADPKD 2
- The absence of any renal cyst is sufficient for disease exclusion only for at-risk subjects aged 40 years or older 2, 3
Molecular Genetic Testing
Molecular genetic testing is available for the diagnosis of ADPKD, especially in subjects with equivocal imaging results, subjects with a negative or indeterminate family history, or in younger at-risk individuals being evaluated as potential living-related kidney donors 4, 5, 6
- Genetic testing can provide a definitive diagnosis of ADPKD and can help identify the underlying genetic mutation 6
- Next-generation sequencing (NGS) can provide a high-throughput, accurate, and comprehensive screen of multiple cystic disease and modifier genes at a reduced cost 6
Imaging-Based Diagnostic Tests
Imaging-based diagnostic tests, such as renal ultrasonography, are commonly used for the diagnosis of ADPKD 4, 2, 5, 3