New Ultrasound Screening Criteria for Polycystic Kidney Disease Proposed

Modification of the current screening criteria is needed for diagnosing patients with autosomal dominant polycystic disease (ADPKD). A study suggests that some patients with some forms of ADPKD may be misdiagnosed.

Screening for ADPKD in individuals with a family history of the disease is important. Young people who know they are affected may be able to better preserve their kidney function by diet, lifestyle modification, and blood pressure control.

The results indicated that the ultrasound diagnostic criteria currently in use may misdiagnose individuals with mutations in the PKD2 gene. Therefore, the investigators designed new ultrasound criteria that could accurately detect the disease in individuals with mutations in either PKD1 or PKD2 gene.

They determined that in families of unknown gene type, the presence of 3 or more kidney cysts is sufficient for establishing the diagnosis in individuals between ages of 15 to 39 years. In the 40 to 59 years age group 2 or more cysts in each kidney are sufficient for diagnosis, and in individuals at risk over 60 years, 4 or more cysts in each kidney are required for the diagnosis of ADPKD. This criteria applies only to individuals who have a family history of ADPKD.

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