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

Abstract

Results of an ongoing 4 yr 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, 8 had bilateral renal cysts without hepatic cysts on both imaging studies, 4 had bilateral renal cysts on both imaging studies and hepatic cysts on at least 1 imaging study, 2 children who did not have sonographic studies had bilateral renal cysts on nephrotomography, and 2 children who had a normal nephrotomography had unilateral renal cysts on ultrasonography. 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.