Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.

ABSTRACT: Autosomal dominant polycystic kidney disease (ADPKD) is estimated to affect 1/600-1/1000 individuals worldwide. The disease is characterized by age dependent renal cyst formation that results in kidney failure during adulthood. Although ultrasound imaging may be an adequate diagnostic tool in at risk individuals older than 30, this modality may not be sufficiently sensitive in younger individuals or for those from PKD2 families who have milder disease. DNA based assays may be indicated in certain clinical situations where imaging cannot provide a definitive clinical diagnosis. The goal of this study was to evaluate the utility of direct DNA analysis in a test sample of 82 individuals who were judged to have polycystic kidney disease by standard clinical criteria. The samples were analyzed

SUBMITTER: Garcia-Gonzalez MA 

PROVIDER: S-EPMC2085355 | biostudies-literature | 2007 Sep-Oct

REPOSITORIES: biostudies-literature