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 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 and polycystin 2, respectively. Many recent advances have been made in understanding and managing ADPKD. This Core Curriculum outlines the different aspects of molecular genetics, pathophysiology, diagnosis, and management of kidney and extrarenal complications in ADPKD.