Diagnostic Approach for Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Diagnostic Criteria and Imaging

The American College of Nephrology recommends starting with renal ultrasonography and applying age-specific diagnostic criteria for adults with a positive family history of ADPKD 1.
For adults with a positive family history, the diagnostic criteria are as follows:
The European Society of Nephrology recommends that when ultrasound results are equivocal or atypical, proceed to MRI or genetic testing 2, 3.

The American Academy of Pediatrics recommends that parents of children with a family history of ADPKD be offered counseling about two equally acceptable clinical pathways: ongoing surveillance or immediate diagnostic screening (ultrasonography or genetic testing) 1, 4.
Renal ultrasonography is the current gold standard for radiological diagnosis in children due to smaller body size, no sedation requirement, and no radiation exposure 1, 3.

The National Institute for Health and Care Excellence recommends offering genetic testing with multigene panels in scenarios such as infants and children with very-early-onset symptomatic disease, progressive disease with negative family history, few kidney cysts with otherwise suggestive clinical picture, young living-related kidney donors at risk based on family history, equivocal or atypical imaging results, discordant imaging and glomerular filtration rate, variable intrafamilial disease severity, and family planning and preimplantation diagnosis considerations 6, 5, 3.
The American Society of Nephrology recommends using comprehensive cystic kidney disease panels rather than testing single ADPKD genes because unusual genetic constellations can radically alter phenotype and prognosis 6, 5, 3.

The International Society of Nephrology recommends using the Mayo Imaging Classification (MIC) to predict future kidney function decline and timing of kidney failure once ADPKD is confirmed 2, 3.
Measure height-adjusted total kidney volume most accurately by MRI or CT using automated/semi-automated tools to stratify patients into risk categories (1A-1E) 2, 3.