To this end, a series of ultrasound criteria have been created and validated for screening. The criteria are based on the principle that the younger you are, the less likey you are to have cysts. These criteria have a very high sensitivity & specificity (apparently approaching 100%) in the appropriate clinical scenario. The criteria are as follows:
For patients with PKD 1 mutations:
age <30:>60: need at least 4 cysts per kidney.
For patients with PKD 2 mutations (which is generally less severe and delayed onset compared to PKD 1 mutations:
-need 4 or more cysts per kidney (ages 30-59) to reach a sensitivity of 96%.According to recommendations on Up To Date, patients less than 18 years of age should NOT be screened for ADPKD.
Ravine, D, Gibson, RN, Walker, RG, et al. Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994; 343:824.
Nicolau, C, Torra, R, Badenas, C, et al. Autosomal dominant polycystic kidney disease types 1 and 2: Assessment of US sensitivity for diagnosis. Radiology 1999; 213:273.