Unified criteria for ultrasonographic diagnosis of ADPKD

Y Pei, J Obaji, A Dupuis, AD Paterson… - Journal of the …, 2009 - journals.lww.com
Individuals who are at risk for autosomal dominant polycystic kidney disease are often
screened by ultrasound using diagnostic criteria derived from individuals with mutations in
PKD1. Families with mutations in PKD2 typically have less severe disease, suggesting a
potential need for different diagnostic criteria. In this study, 577 and 371 at-risk individuals
from 58 PKD1 and 39 PKD2 families, respectively, were assessed by renal ultrasound and
molecular genotyping. Using sensitivity data derived from genetically affected individuals …