Maria Kolatsi-Joannou

Jan 16, 2025 | physoc.onlinelibrary.wiley.com | Lauren Russell |Maria Kolatsi-Joannou |Laura Wilson |Jennifer Chandler

1 INTRODUCTION Polycystic kidney disease (PKD) is characterized by the formation of fluid-filled renal cysts, which disrupt the architecture and function of the kidney and is the most common genetic cause of end stage kidney disease (ESKD). The two main forms of PKD are autosomal dominant PKD (ADPKD) and autosomal recessive PKD (ARPKD) which are caused by mutations in PKD1 or PKD2 (encoding polycystin-1 and -2) and PKHD1 (encoding for fibrocystin), respectively (Bergmann et al., 2018).