Overview
Definition
Inherited disorder in which clusters of cysts develop primarily within the kidneys.
Epidemiology
Autosomal dominant form affects 1 in 400 to 1,000 people.
Etiology & Risk Factors
- Mutations in PKD1 or PKD2 genes
Clinical Symptoms
- Flank pain
- Hematuria
- Hypertension
- Palpable bilateral abdominal masses
Clinical Approach
Diagnosis
- Renal Ultrasound (multiple cysts)
- CT/MRI Abdomen
- Genetic testing
Management
- BP control (ACEi/ARB)
- Tolvaptan
- Dialysis/Transplant
Complications
- Berry aneurysms (subarachnoid hemorrhage)
- End-stage renal disease