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NEPHROLOGY

Polycystic Kidney Disease

Etiology

Autosomal dominant mutation (PKD1/PKD2)

Pathogenesis

Cyst formation → enlarged kidneys → loss of renal function
Cysts compress renal tissue
Associated cysts in liver, pancreas; berry aneurysms

Clinical Features

Flank pain
Hematuria
Hypertension
Recurrent UTIs
Kidney enlargement on imaging

Treatment

Blood pressure control (ACE inhibitors)
Tolvaptan to slow progression
Treat infections
Dialysis or transplant in late stages