Diagnosis and Management of Polycystic Kidney Disease

Diagnostic Approach

The American College of Nephrology recommends renal ultrasonography as the first-line diagnostic test for adults with a positive family history of ADPKD, requiring ≥3 cysts (total in both kidneys) by age 40 years to confirm diagnosis 1
For adults with incidentally detected cysts and no family history, the European Renal Association suggests kidney MRI or CT followed by genetic testing if imaging is atypical or equivocal 1, 4
The International Society of Nephrology recommends applying age-specific ultrasound criteria for PKD1/PKD2 families, with the presence of ≥3 renal cysts (total in both kidneys) by age 40 being diagnostic 1

The American Society of Nephrology suggests genetic testing is particularly helpful in clinical scenarios such as few kidney cysts present with otherwise suggestive clinical picture, variable intrafamilial disease severity, discordant imaging and glomerular filtration rate, young living-related kidney donors at risk based on family history, family planning and preimplantation diagnosis considerations, and infants and children with very-early-onset symptomatic disease independent of family history 1, 6, 7
The National Institute for Health and Care Excellence recommends using multigene panel testing rather than single-gene analysis because unusual genetic constellations can radically alter phenotype and prognosis 6, 7

The European Society for Pediatric Nephrology recommends ultrasonography as the radiological method of choice in children due to smaller body size, no sedation requirement, and no radiation exposure 2, 3
The American Academy of Pediatrics suggests detection of ≥1 kidney cyst on ultrasound is highly suggestive of ADPKD in children <15 years with positive family history, with 89% specificity <5 years and 100% specificity >5 years 2, 3, 8

The Kidney Disease: Improving Global Outcomes initiative recommends employing the Mayo Imaging Classification to predict future kidney function decline and timing of kidney failure once ADPKD is diagnosed, which divides ADPKD into typical and atypical presentations 1
The National Kidney Foundation suggests measuring height-adjusted total kidney volume most accurately by MRI or CT using automated/semi-automated tools, or alternatively estimating using the ellipsoid equation 1

The American College of Medical Genetics and Genomics recommends genetic testing with multigene panels to distinguish ADPKD from other inherited disorders presenting with kidney and/or liver cysts, such as HNF1B-related kidney disease, Alagille syndrome, and COL4A-related diseases 1, 6, 7