Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a genetic disorder that primarily affects the kidneys and sometimes the liver. It causes the development of many small cysts in the kidneys, which can lead to kidney enlargement and impaired kidney function. This condition often presents in infancy or early childhood and can cause problems with urine production and blood pressure regulation. The liver involvement may lead to scarring and problems with bile flow. Overall, ARPKD can significantly impact a child's health by affecting how well the kidneys and liver work.

Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a hereditary disorder characterized by the development of numerous dilated renal collecting ducts forming cysts, leading to bilateral kidney enlargement and progressive renal insufficiency. It is caused by mutations in the PKHD1 gene encoding fibrocystin/polyductin, which disrupts normal tubular and biliary duct development. The disease manifests primarily in infancy or early childhood with renal dysfunction, hypertension, and hepatic fibrosis due to congenital hepatic ductal plate malformation. The combination of renal cystic disease and congenital hepatic fibrosis distinguishes ARPKD from other cystic kidney diseases. The severity ranges from perinatal death due to pulmonary hypoplasia to chronic kidney disease in childhood.