Autosomal Recessive PKD
Autosomal Recessive PKD (ARPKD) is a genetic disorder that primarily affects the kidneys and liver. It is caused by mutations in the PKHD1 gene, which leads to the development of fluid-filled cysts in the kidneys. This condition is typically diagnosed in infancy or early childhood and can result in kidney dysfunction and high blood pressure.
In addition to kidney issues, ARPKD can also affect the liver, causing fibrosis and other complications. Symptoms may include abdominal swelling, difficulty breathing, and urinary problems. Early diagnosis and management are crucial for improving outcomes and quality of life for affected individuals.