Diagnosis of autosomal-dominant polycystic kidney disease: an integrated approach.

Abstract excerpt

Autosomal-dominant polycystic kidney disease (ADPKD) is the most common Mendelian disorder of the kidney and accounts for approximately 5% of end-stage renal disease in developed countries. It is characterized by focal and sporadic development of renal cysts that increase in number and size with age. Mutations of 2 genes (ie, PKD1 and PKD2) account for most of the cases. Although the clinical manifestations of...

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