Autosomal dominant polycystic kidney disease (ADPKD) is associated with cysts in the kidneys and, in many cases, cysts in the liver and pancreas that can be helpful in confirming the diagnosis. In addition, patients may have a variety of other abnormalities, many of which are consistent with a generalized defect in epithelial cell differentiation and/or extracellular matrix function as a primary expression of the genetic abnormality in this disorder [1-5]. (See "Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth".)
The major extrarenal complications of ADPKD are:
- Cerebral aneurysms
- Hepatic and pancreatic cysts
- Cardiac valve disease
- Colonic diverticula
- Abdominal wall and inguinal hernia
Malformations of selected vasculature, including intracranial aneurysms and aortic root dilatation (normal diameter ≤35 mm), may be due to altered expression and/or function of the PKD gene in arterial smooth muscle cells . Cervicocephalic artery dissections, dolichoectasias [7,8], and central retinal vascular occlusions  have also been associated with ADPKD.
A ruptured cerebral aneurysm, resulting in a subarachnoid or intracerebral hemorrhage, is the most serious complication of polycystic kidney disease . The prevalence of aneurysms in ADPKD is approximately 5 percent in young adults and increases with age to as high as 20 percent in patients 60 years and older [2,3,10-13].