- abnormal genes in chromosome 16 (PKD 1) - 85% and chromosome 4 (PKD 2)
Note: there are 16 alphabates in polycystic kidney
- prevalence 1:400 - 1:1000 in Caucasian population
- presents with hypertension, painless hematuria, loin pain
- associated with Berry's aneurysm (80%) which can rupture leading to subarachnoid hemorrhage
- increased incidence of mitral valve prolapse and aortic/tricuspid incompetence associated with colonic diverticular disease with an increased rate of perforation
- ultrasound kidney (screening) best delayed to 3rd decade of life due to high false positive rate in young patients
- ACE inhibitors are first line treatment for hypertension
- by 70 years old, 30% sufferer requiring renal replacement therapy
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