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Genetics of Brain Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease

ADPKD is the most common genetic form of kidney failure that can involve other organ systems. Dilatation of blood vessels in the brain called brain aneurysm is a prominent cause of neurological damage in ADPKD. Brain aneurysms also cluster in ADPKD families such that the risk is several times higher in the presence of an ADPKD family member with history of brain aneurysm. The goal of this study is to identify genetic defects associated with brain aneurysm formation in ADPKD.

Participant information

Inclusion criteria:

  • The study will enroll individuals >18 years of age who carry a confirmed diagnosis of ADPKD as defined by clinical/imaging studies or genetic testing AND a confirmed brain aneurysm on imaging or treatment of a confirmed brain aneurysm by surgery or embolization
  • Family members of affected individuals who also carry both the above-mentioned diagnoses and can consent may also be included

Exclusion Criteria:

  • Individuals under age 18 will not be included
  • Individuals who cannot provide their own informed consent will not be included

Participation is possible by mail and telephone. In person participation is possible at the University of Maryland. Participants will provide details on their personal PKD history and family history and may also be asked to give permission to obtain related past medical records. Participants will provide a blood sample for the study.

Contact information:

Ashima Gulati, MD
Phone: 203 -737-2941
Email: ashima.gulati@yale.edu

Terry Watnick, MD
Phone: 410-706-5803
Email: twatnick@som.umaryland.edu