Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Definition
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the development of numerous fluid-filled cysts in both kidneys, leading to progressive kidney dysfunction and potential liver complications. It is caused by mutations in the PKHD1 gene and is inherited in an autosomal recessive manner.