An ADPKD diagnosis can be made based on symptomatology, family history and imaging. In cases where family history in unknown, genetic testing can be used to confirm diagnosis.
Imaging tests using ultrasonography, magnetic resonance imaging (MRI) or computerized tomography (CT) can be used to detect cyst size, location and quantity. MRI or CT can detect cysts too small to be measured with ultrasonography.
Using MRI or CT measurements and the Mayo imaging classification, height-adjusted total kidney volume can be calculated to determine patients at risk of rapidly progressing ADPKD.
1. Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019 Mar 2;393(10174):919-935.