Autosomal dominant polycystic kidney

Autosomal Dominant Polycystic Kidney Disease (ADPKD) 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 over time. ADPKD affects individuals across various ethnicities and is a leading cause of kidney failure. This article provides an overview of its causes, symptoms, diagnosis, and treatment.

Causes

ADPKD is caused by mutations in the PKD1 or PKD2 genes. These genes are responsible for the normal development and functioning of kidney cells. A mutation in either gene can lead to the formation of cysts. Since ADPKD is an autosomal dominant condition, only one copy of the mutated gene, inherited from an affected parent, is sufficient to cause the disease.

Symptoms

The symptoms of ADPKD can vary widely among individuals. Some common symptoms include:

• High blood pressure
• Pain in the back or sides
• Blood in the urine (hematuria)
• Frequent urinary tract infections
• Kidney stones
• Kidney failure

Symptoms often do not appear until a person is between 30 and 40 years old, but they can start earlier, even in childhood.

Diagnosis

Diagnosis of ADPKD is primarily based on imaging tests such as ultrasound, MRI, or CT scan, which can reveal the presence of cysts in the kidneys. Genetic testing may also be used to identify mutations in the PKD1 or PKD2 genes, especially in individuals with a family history of the disease.

Treatment

There is no cure for ADPKD, but treatment focuses on managing symptoms and preventing complications. Treatment options may include:

• Medications to control blood pressure
• Pain management
• Treatment for urinary tract infections and kidney stones
• Dialysis or kidney transplant in cases of kidney failure

Lifestyle changes, such as maintaining a healthy diet, exercising regularly, and quitting smoking, are also recommended to manage the disease.

Prognosis

The prognosis for individuals with ADPKD varies. The disease progresses at different rates for different people. Some may live a normal lifespan with mild symptoms, while others may develop kidney failure and require dialysis or a kidney transplant.

Research

Research on ADPKD is ongoing, with studies focusing on understanding the genetic causes of the disease and developing new treatments. Advances in genetic therapy and drug development hold promise for improving the management of ADPKD in the future.