Adult polycystic disease of the liver (APLD) and of the kidney (ADPKD) is considered to represent one entity. In 75 ADPKD kindreds with 259 affected members, ultrasonography and/or CT were performed in 186 (71.8%) from 64 kindreds (85.3%). We demonstrated that ADPKD with or without APLD are two separate phenotypes and suggest genetic heterogeneity of these two entities.