Genetic Determinants of Aneurysms in Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic kidney disease and results in kidney failure from accumulation of fluid-filled cysts in the kidney. Families with ADPKD are also at higher risk for intracranial aneurysm (ICA), for reasons that are unknown. This risk runs in families. Our study aims to identify genetic similarities amongst those ADPKD families who also have intracranial aneurysms (ICA) in contrast to those don’t develop ICA. We are recruiting ADPKD patients who have had past or recent brain imaging that showed (or excluded) ICA.

Participants must be 18 years of age. Participation requires a one-time blood sample for research genetic testing of DNA using whole exome sequencing.