Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Studies of this disorder are focused on genetic analysis of human disease populations and animal modes:

  1. ADPKD is known to be genetically heterogenous with two genes, PKD1 and PKD2 identified. A few families apparently unlinked ot these genes have been described. Using mutation and linkage studies we are determining if there is a third ADPKD population.
  2. We are developing methods to identify large mutational rearrangements to the PKD1 and the PKD2 genes that represent up to 5% of mutations.
  3. We have completed mutation screening of a large ADPKD population involved in an imaging-based observational study (CRISP). Genotype/phenotype analysis of this population is now underway.
  4. Specific populations with unusual disease manifestations including: early onset kidney disease, mild kidney disease and severe liver disease are being analyzed for genotype/phenotype correlations.
  5. The frequency of PKD1 and PKD2 in a geographically defined population (Olmsted County) is being determined.
  6. The fate of mutant PKD proteins (polycystin-1 and polycystin-2) is being analyzed in animal models of these disorders.