Clinical Care of Autosomal Polycystic Kidney Disease: Retrospective Analysis and Prospective PKD Genotyping

To explore questions regarding the natural history of PKD, as well as other, unforeseen issues, a comprehensive database of demographic, clinical, biochemical, and genetic data is required. This descriptive retrospective study can serve as a source of information regarding either the entire ADPKD population, or subsets of patients with specifically targeted characteristics. This will inform future prospective studies that will be designed to address issues regarding the natural history and complications of ADPKD. The goal of this project is to collect data from a large population of patients with PKD. Based upon the estimated prevalence of PKD (1:500 and 1:1000 live births), it is estimated that there may be 10,000 PKD patients in the New York City area. This sample size far exceeds any database established thus far. As many as 40% of affected PKD patients are reportedly unaware of a family history of this disease, in part because many patients may go undiagnosed until they present with a medical complication (e.g., hypertension, kidney failure). Furthermore, this initiative will provide an opportunity to compare data from racially diverse populations.