Can normal kidney ultrasounds rule out ADPKD?
No, because the utility of ultrasound to exclude ADPKD is limited in individuals under 30 years old with a family history of the disease, particularly those with PKD2 mutations. In these individuals, MRI, CT, or genetic testing should be considered.
Nevertheless, most ADPKD cases can be confirmed or ruled out on imaging testing. Furthermore, a study has shown that fewer than five kidney cysts on MRI are sufficient for excluding ADPKD in at-risk subjects between 16 and 40 years of age.
