AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE (ADPKD)
ADPKD is due to mutations in the genes encoding polycystin-1 (85%) or polycystin-2 (15%); over 90% of PKD are inherited, the rest due to spontaneous mutations. PKD accounts for ~4% of end-stage renal disease in the USA.
   Symptoms & signs include hypertension, enlarging abdominal masses (compression symptoms can include GERD and early satiety), abdominal or flank pain, renal colic, hematuria, polyuria, nocturia, and urinary tract infection.  

    There is a wide variation in the phenotypic expression of PKD. There is a three-fold increase in the risk of intracerebral bleed due cerebral aneurysms. Approximately 40% of patients have hepatic cysts by the age of 60 (see CT on left), and there is a high incidence of abdominal hernias (see picture above), and a predisposition to develop mitral valve prolapse and aortic insufficiency.