PKD1 Compared With PKD2 Genotype and Cardiac Hospitalizations in the Halt Progression of Polycystic Kidney Disease Studies
Cortney Steele, Zhiying You, Berenice Y. Gitomer, Godela Brosnahan, Kaleab Z. Abebe, William E. Braun, Arlene B. Chapman, Peter C. Harris, Ronald D. Perrone, Theodore I. Steinman, Vicente E. Torres, Alan S.L. Yu, Michel Chonchol, Kristen L. Nowak
Abstract
Autosomal dominant polycystic disease (ADPKD) is a genetic disorder characterized by progressive development and enlargement of kidney cysts that ultimately lead to loss of kidney function in most individuals.1 ADPKD is primarily caused by mutations in the PKD1 and PKD2 genes.1 Although the hallmark of ADPKD is an increase in total kidney volume with progressive loss of kidney function owing to the accumulation of kidney cysts, cardiovascular complications are a leading cause of death.2 Notably, polycystin 1 and 2 are expressed in vascular endothelial and vascular smooth muscle cells.