Complications of polycystic kidney disease

The morbidity associated with the most common forms of polycystic kidney disease (PKD), autosomal dominant PKD (ADPKD) and autosomal recessive PKD, is largely limited to the kidney and liver (and, in ADPKD, vasculature), and extends from neonates to old age. ADPKD presents with large phenotypic variability due to heterogeneity at the gene (genic) and mutation (allelic) level (PKD1 and PKD2). Individuals with PKD1 tend to have a more severe clinical presentation, a higher number of cysts, earlier diagnosis, a higher incidence of hypertension and hematuria, and end-stage renal disease occurring on average 20 years earlier (54.3 vs 74.0 years old in PKD2). Both PKD1 and PKD2 can be associated with severe polycystic liver disease (PLD) and vascular abnormalities [1]. The typical presenting symptoms in ADPKD include hypertension, flank pain, hematuria, and less frequently nephrolithiasis and urinary tract infections.