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Enlarged kidneys 2/ 2 cysts; flank pain, hematuria, HTN, liver cysts, progressive renal fail
Adult polycystic kidney disease (ADPKD)
Inheritence: AD w/locus heterogeneity
Gene: PKD 1 (C.16) & PKD 2 (C.4)-membrane proteins involved w/ cell signaling
Freq: 1:400 to 1:1,000
Always bilateral kidney cysts, assoc w polycystic liver dz, cerebral berry aneurysms, MV prolapse and valvular disease.
Dx: symptomatic & 18+ in age, ultrasonography and CT scan kidneys.
Tx: dialysis for kidney failure, kidney transplant.