Autosomal Dominant Polycystic Kidney Disease: Core Curriculum 2016

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disease. It is characterized by relentless development of kidney cysts, hypertension, and eventually end-stage renal disease (ESRD). ADPKD is associated with abdominal fullness and pain, cyst hemorrhage, nephrolithiasis, cyst infection, hematuria, and reduced quality of life, among other symptoms. The disease is a consequence of mutations in PKD1 or PKD2, encoding polycystin 1 (PC-1) and polycystin 2 (PC-2), respectively.