Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (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 formation of fluid-filled cysts in the kidneys. These cysts can disrupt normal kidney function, resulting in complications such as high blood pressure and kidney failure.
ARPKD is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene—one from each parent—to develop the disease. Symptoms often appear in infancy or early childhood, and early diagnosis is crucial for managing the condition effectively.