Background and Objectives: Total kidney volume (TKV) is a validated prognostic biomarker for autosomal dominant polycystic kidney disease (ADPKD). TKV by magnetic resonance imaging (MRI) and manual segmentation is considered the "reference standard", but is time-consuming and not readily accessible. By contrast, 3-dimensional ultrasound (3D ultrasound) provides a promising technology for TKV measurements with unknown potential. Here, we report a comparative study of TKV measurements by 3D ultrasound vs. the conventional methods by ultrasound ellipsoid and MRI ellipsoid. Design, setting, participants, and measurements: Single-center prospective study of 142 patients who completed a standardized 3D ultrasound and MRI. TKV by 3D ultrasound and ultrasound ellipsoid were compared to those by MRI. We assessed the agreement of TKV measurements by Bland-Altman plots and misclassification of the Mayo Clinic Imaging Classes (MCIC) between the different imaging methods, and prediction of MCIC 1C-1E by average ultrasound kidney length >16.5 cm. Results: Compared to MRI manual segmentation, MRI ellipsoid, 3D ultrasound, and ultrasound ellipsoid underestimated TKV (mean difference: -3.2%, -9.1%, and -11.0%) with MCIC misclassified in 11%, 21% and 22% of patients, respectively; most misclassified cases by MRI ellipsoid (11/16), 3D ultrasound (23/30), and ultrasound ellipsoid (26/31) were placed into a lower MCIC. Prediction of the high-risk MCIC (1C-1E) by MRI ellipsoid, 3D ultrasound, and ultrasound ellipsoid all yielded high positive predictive value (96%, 95%, 98%), and specificity (96%, 96%, 99%). However, both negative predictive value (90%, 88%, 95%) and sensitivity (88%, 85%, 94%) were lower for 3D ultrasound and ultrasound ellipsoid compared to MRI ellipsoid. An average ultrasound kidney length >16.5 cm was highly predictive of MCIC 1C-1E only in patients aged <45 years. Conclusions: TKV measurements in ADPKD by 3D ultrasound and ultrasound ellipsoid displayed similar bias, variability, and are less accurate than MRI ellipsoid. Prediction of high-risk MCIC (1C-1E) by all three methods provides high positive predictive value, but ultrasound ellipsoid is simpler to use and more readily available.

Using age- and height-adjusted total kidney volume, the Mayo Clinic Imaging Classification provides a validated approach to assess the risk of chronic kidney disease (CKD) progression in autosomal dominant polycystic kidney disease (ADPKD), but requires excluding patients with atypical imaging patterns, whose clinical characteristics have been poorly defined. We report an analysis of the prevalence, clinical and genetic characteristics of patients with atypical polycystic kidney disease by imaging. Patients from the extended Toronto Genetic Epidemiology Study of Polycystic Kidney Disease recruited between 2016 and 2018 completed a standardized clinical questionnaire, kidney function assessment, genetic testing, and kidney imaging by magnetic resonance or computed tomography. We compared the prevalence, clinical features, genetics, and renal prognosis of atypical versus typical polycystic kidney disease by imaging. Forty-six of the 523 (8.8%) patients displayed atypical polycystic kidney disease by imaging; they were older (55 vs. 43 years; P < 0.001), and less likely to have a family history of ADPKD (26.1% vs. 74.6%; P < 0.001), a detectable PKD1 or PKD2 mutation (9.2% vs. 80.4%; P < 0.001), or progression to CKD stage 3 or stage 5 (P < 0.001). Patients with atypical polycystic kidney disease by imaging represent a distinct prognostic group with a low likelihood of progression to CKD.