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Ultrasound-based criteria for diagnosis and exclusion of ADPKD among patients with a positive family history

Ultrasound-based criteria for diagnosis and exclusion of ADPKD among patients with a positive family history
Diagnostic purpose Age (years)* Imaging findings Family history of PKD1 Family history of PKD2 Family history with unknown gene type
Confirmation
  15 to 29 Total of ≥3 cysts

PPV, 100%

Sensitivity, 94.3%

PPV, 100%

Sensitivity, 69.5%

PPV, 100%

Sensitivity, 81.7%
30 to 39 Total of ≥3 cysts

PPV, 100%

Sensitivity, 96.6%

PPV, 100%

Sensitivity, 94.9%

PPV, 100%

Sensitivity, 95.5%
40 to 59 ≥2 cysts in each kidney

PPV, 100%

Sensitivity, 92.6%

PPV, 100%

Sensitivity, 88.8%

PPV, 100%

Sensitivity, 90.0%
Exclusion
  15 to 29 No kidney cyst

NPV, 99.1%

Specificity, 97.6%

NPV, 83.5%

Specificity, 96.6%

NPV, 90.8%

Specificity, 97.1%
30 to 39 No kidney cyst

NPV, 100%

Specificity, 96.0%

NPV, 96.8%

Specificity, 93.8%

NPV, 98.3%

Specificity, 94.8%
40 to 59 No kidney cyst

NPV, 100%

Specificity, 93.9%

NPV, 100%

Specificity, 93.7%

NPV, 100%

Specificity, 93.9%

ADPKD: autosomal dominant polycystic kidney disease; PKD1: polycystic kidney disease 1 locus; PKD2: polycystic kidney disease 2 locus; PPV: positive predictive value; NPV: negative predictive value.

* In patients 60 years or older, the presence of 4 or more cysts in each kidney confirms the diagnosis of ADPKD, whereas the presence of 1 or fewer excludes the diagnosis. For patients of age <15 years, please refer to the UpToDate topic on diagnosis of ADPKD in children. For patients over 60 years of age, please refer to the UpToDate topic on diagnosis of ADPKD in adults.

¶ Unilateral or bilateral.
Original figure modified for this publication. From: Chapman AB, Devuyst O, Eckardt KU, et al. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int 2015; 88:17. Table used with the permission of Elsevier Inc. All rights reserved.
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