Unified Ultrasonographic Diagnostic Criteria for Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening hereditary disease in the United States, occurring in approximately one in every 400 to 1000 live births.1 ADPKD accounts for approximately 5 to 10% of end-stage renal failure in the United States requiring dialysis and renal transplantation.2 ADPKD is characterized by progressive enlargement of cyst-filled kidneys, severely affecting those who inherit one of the known genes that cause the disease. Mutations in PKD1, located on chromosome 16, are associated with a higher prevalence (85% of cases), earlier clinical presentation, and higher morbidity and mortality. Less profoundly affected individuals with mutations in PKD2, located on chromosome 4, account for the remaining 15% of cases.3 In patients with PKD2 mutations, end-stage kidney disease occurs on average 20 yr later than with PKD1 mutations (mean age 74 versus 54 yr).3 In a study previously reported in JASN , PKD1 kidneys were significantly larger and had more cysts than PKD2 kidneys, although the rate of cyst growth was not different between PKD1 and PKD2 kidneys.4 On the basis of effectiveness, cost, and safety, ultrasound is the most commonly used imaging modality to make the diagnosis of ADPKD. Magnetic resonance imaging and computed tomography scanning are used for research purposes, and no reported studies have compared ultrasound with other imaging modalities for the diagnosis of ADPKD. ADPKD is suspected when patients present with symptoms related to the large kidneys associated with hypertension, flank pain or hematuria, palpable kidneys or liver, or subarachnoid hemorrhage. ADPKD is also diagnosed incidentally when an abdominal ultrasound is performed for …