Polycystic kidneys

Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts are filled with fluid and can lead to enlarged kidneys, disrupting their function. PKD can cause chronic kidney disease which may progress to kidney failure, necessitating dialysis or kidney transplantation for survival. The condition is primarily inherited and comes in two main forms: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Types of Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

ADPKD is the more common form of PKD, usually manifesting in adulthood. It is characterized by a high number of cysts developing in both kidneys, although other organs such as the liver, pancreas, and brain can also be affected. Symptoms may include pain in the back and sides, blood in the urine, high blood pressure, and kidney stones. ADPKD is caused by mutations in the PKD1 or PKD2 genes.

Autosomal Recessive Polycystic Kidney Disease (ARPKD)

ARPKD is less common and often more severe, with symptoms appearing shortly after birth or during early childhood. This form affects the kidneys and liver, leading to kidney dysfunction and liver fibrosis. ARPKD is caused by mutations in the PKHD1 gene.

Symptoms and Complications

Symptoms of PKD can vary widely and may include:

• High blood pressure
• Back or side pain
• Blood in the urine
• Frequent kidney infections
• Kidney stones
• Brain aneurysms
• Liver and pancreatic cysts

Complications can include chronic kidney disease, kidney failure, and problems in other organs affected by cysts.

Diagnosis

Diagnosis of PKD often involves imaging tests such as ultrasound, MRI, or CT scans to visualize the cysts in the kidneys. Genetic testing may also be used, especially in families with a history of the disease.

Treatment

There is no cure for PKD, but treatment focuses on managing symptoms and preventing complications. High blood pressure is treated with medication, and pain may be managed with over-the-counter or prescription pain relievers. In cases of kidney failure, dialysis or kidney transplantation may be necessary.

Prevention and Management

While PKD cannot be prevented due to its genetic nature, individuals can manage their risk of complications through regular monitoring, controlling blood pressure, and maintaining a healthy lifestyle.