- Autosomal dominant disorder leading to bilateral cysts that impair function
- Can also causes cysts in pancreas, liver, seminal vessicles
- Also an autosomal recessive variant
- Flank pain, hemturia
- Can be asymptomatic, identified by imaging for other reasons or as part of evaluation for decline in GFR
- Often leads to need for renal replacement therapy - though course can be variable
- Increased risk sub-arachnoid aneurysms
- Sometimes bilateral renal masses