Skill Checkup: A 41-Year-Old Man With New-Onset Abdominal and Flank Pain

Vecihi Batuman, MD


February 02, 2023

ADPKD is typically diagnosed on a clinical basis by evaluating the number of kidney cysts adjusted to age. Ultrasonography is the gold standard for working up patients with ADPKD and for screening family members. For patients with a family history of PKD between the ages of 40 and 59 years, like the one described in this case, at least two cysts in each kidney ultrasound confirms a diagnosis.

The most important factor in assessing disease severity is measuring cyst burden and kidney function against age. Patients should be assessed for the risk for rapid progression using validated biomarkers such as HtTKV. The gold standard to measure TKV is planimetry or stereology to calculate kidney volume, though an ellipsoid formula is a practical alternative. Among the key findings from the CRISP study are that TKV is associated with decline in glomerular filtration rate (GFR) and that exponential increase in TKV varies from patient to patient.

CT is typically not routine in the workup for ADPKD but may be useful to rule out the condition in pediatric or complicated cases (eg, kidney stone and suspected tumor). Likewise, MRI is also not routine but is helpful in ruling out carcinomas and considered the most reliable imaging tool for monitoring kidney size and TKV after treatment initiation.

Because this patient has a known family history of PKD, genetic testing is not indicated.

Ultrasound imaging reveals two bilateral cysts in the right kidney and three diffuse bilateral cysts on the left. TKV is 817 mL.


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