Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a hereditary, genetic disorder that affects the development and function of the kidneys. It is characterized by the formation of numerous fluid-filled cysts within the kidneys, ultimately leading to their enlargement and reduced functionality.
ARPKD is considered an autosomal recessive disorder, which means it occurs when two copies of the defective gene responsible for the condition are inherited, one from each parent. Individuals with only one copy of the mutated gene are known as carriers and typically do not exhibit symptoms of the disease.
The onset of ARPKD varies, but most cases are evident in infancy or early childhood. The symptoms can range from mild to severe, including enlarged kidneys, high blood pressure, frequent urinary tract infections, kidney stones, and in more severe cases, kidney failure. Additionally, the impact of ARPKD may extend beyond the kidneys, as other organs such as the liver, lungs, and pancreas may also be affected.
Diagnosis of ARPKD is typically made through ultrasound imaging or genetic testing. Treatment options mainly focus on managing symptoms and complications. This may include medications to control blood pressure, antibiotics to treat infections, and dialysis or kidney transplantation in cases of kidney failure.
While ARPKD is a chronic, lifelong condition, advancements in medical care have improved the prognosis for individuals with the disease. Early detection, regular monitoring, and appropriate management can help alleviate symptoms and optimize quality of life for those affected by ARPKD. Genetic counseling is also recommended for families who have a history of the condition to assess the risk of inheriting ARPKD.
