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.Do you want to add Medilib to your home screen?