Ultrasonography and nephrotomography in the presymptomatic diagnosis of dominantly inherited (adult-onset) polycystic kidney disease

Results of an ongoing four-year study evaluating the role of ultrasonography, nephrotomography, and routine excretory urography in the presymptomatic diagnosis of adult polycystic kidney disease (APKD) are reported. Of 39 asymptomatic individuals who were at risk for APKD, 16 had abnormal studies - eight had bilateral renal cysts without hepatic cysts on both imaging studies, four had bilateral renal cysts on both imaging studies and hepatic cysts on at least one imaging study, two children who did not have sonographic studies had bilateral renal cysts on nephrotomography, and two children who had a normal nephrotomography had unilateral renal cysts on ultrasonography. Consequently, children of adults with known APKD can be identified as presymptomatic by gray scale ultrasonography, nephrotomography, and/or excretory urography. Gray scale ultrasonography alone is sufficient for family screening for APKD.