What Does ARPKD Stand For?

ARPKD stands for Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder characterized by the development of cysts in the kidneys and liver, leading to progressive kidney dysfunction and potential liver complications. It is caused by mutations in the PKHD1 gene and typically manifests in infancy or early childhood. ARPKD is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Early diagnosis and management are essential for improving outcomes and quality of life for affected individuals.