1. The pretest probability of disease decreases with age in individuals who are born with 50% risk for autosomal dominant polycystic kidney disease (ADPKD) and differs between PKD1 and PKD2.
The pretest probability of disease decreases with age in individuals who are born with 50% risk for autosomal dominant polycystic kidney disease (ADPKD) and differs between PKD1 and PKD2. (A) The prevalence of PKD1 (solid color) and PKD2 (striped color) are assumed to be 85 and 15%, respectively. At birth, the proportion of individuals who are affected but have clinically undiagnosed disease (green) is equal to that of at-risk but unaffected individuals (blue). With increasing age, the proportion of those who are affected but have clinically undiagnosed disease diminishes as a result of increasing proportion of affected individuals’ receiving a clinical diagnosis (yellow). However, a higher proportion of affected individuals with PKD1 will receive a clinical diagnosis (solid yellow) compared with affected individuals with PKD2 (striped yellow), because the former has much more severe renal disease. (B) The pretest probability of disease among individuals who are born with 50% risk for PKD1 (•) and PKD2 (♦) diverges with increasing age. Data from reference (21).
York Pei CJASN 2006;1:
©2006 by American Society of Nephrology