Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts filled with fluid in the kidneys, which can lead to kidney damage and impaired function over time.

Causes and Genetics

ADPKD is caused by mutations in either the PKD1 or PKD2 gene, which provide instructions for making proteins that are involved in the development and maintenance of kidney cells. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene in each cell is sufficient to cause the disorder. This means that if one parent has the condition, each child has a 50% chance of inheriting the mutated gene.

Symptoms

The symptoms of ADPKD can vary widely and may not appear until later in life. Common symptoms include:

• High blood pressure (hypertension)
• Pain in the side or back
• Abdominal swelling or discomfort
• Blood in the urine (hematuria)
• Recurrent kidney stones
• Urinary tract infections
• Kidney failure, which can lead to symptoms such as fatigue, swelling, and shortness of breath

Diagnosis

ADPKD is typically diagnosed using a combination of the following tests:

• Imaging studies, such as ultrasound, computed tomography (CT) scans, or magnetic resonance imaging (MRI) scans, to visualize the kidneys and detect cysts
• Blood tests to evaluate kidney function and check for signs of kidney damage
• Urine tests to check for blood in the urine or proteinuria (excess protein in the urine)
• Genetic testing, which can identify mutations in the PKD1 or PKD2 gene

Treatment and Management

Treatment for ADPKD typically focuses on managing symptoms and slowing the progression of kidney damage. This may include:

• Controlling high blood pressure with medication and lifestyle changes
• Pain management, such as using over-the-counter pain relievers or prescription medications
• Treating urinary tract infections with antibiotics
• Surgery to remove large cysts or kidney stones
• Dialysis or kidney transplantation if kidney failure occurs

Complications

ADPKD can increase the risk of several complications, including:

• Kidney failure, which may require dialysis or a kidney transplant
• High blood pressure, which can lead to cardiovascular disease and stroke
• Bleeding in the brain (intracranial aneurysm)
• Heart valve problems
• Liver cysts and liver damage

Prognosis

The prognosis for individuals with ADPKD varies depending on several factors, including the severity of kidney damage, the presence of other health conditions, and the effectiveness of treatment. With proper management, many people with ADPKD can lead active lives and maintain relatively normal kidney function for many years.