What Is Autosomal Dominant Polycystic Kidney Disease? Causes, Symptoms

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that affects the kidneys. It is caused by a mutation in a specific gene that leads to the formation of fluid-filled sacs, known as cysts, in the kidneys. These cysts can grow over time and interfere with the normal functioning of the kidneys.

Understanding the genetic basis of ADPKD can help individuals with a family history of the disease make informed decisions about their health. If you have concerns about ADPKD, speak with a healthcare professional for more guidance.

What Are the Symptoms of Autosomal Dominant Polycystic Kidney Disease

Autosomal Dominant Polycystic Kidney Disease (ADPKD) can cause symptoms such as abdominal or back pain, high blood pressure, frequent urination, blood in the urine, kidney stones, and urinary tract infections. Other signs include swollen abdomen, kidney enlargement, and kidney failure. Early diagnosis and management are crucial in slowing down the progression of the disease.

Persistent pain in the back or sides of your abdomen could be a symptom of Autosomal Dominant Polycystic Kidney Disease.
High blood pressure that is difficult to control may indicate Autosomal Dominant Polycystic Kidney Disease.
Swelling in the hands, feet, or face might be a sign of Autosomal Dominant Polycystic Kidney Disease.
Blood in the urine, which may appear pink, red, or cola-colored, can be a symptom of Autosomal Dominant Polycystic Kidney Disease.
Frequent urinary tract infections or kidney stones could be related to Autosomal Dominant Polycystic Kidney Disease.

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Causes of Autosomal Dominant Polycystic Kidney Disease

These genetic mutations lead to the development of fluid-filled cysts in the kidneys, disrupting their normal structure and function.

The inheritance pattern of this condition follows an autosomal dominant mode, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the disease.

Autosomal Dominant Polycystic Kidney Disease can be caused by a genetic mutation in the PKD1 gene on chromosome 16.
Another cause of Autosomal Dominant Polycystic Kidney Disease is a mutation in the PKD2 gene on chromosome 4.
In some cases, Autosomal Dominant Polycystic Kidney Disease can be inherited from a parent who carries the faulty gene.
Sporadic mutations can also lead to the development of Autosomal Dominant Polycystic Kidney Disease in individuals with no family history of the condition.
Environmental factors and lifestyle choices may potentially contribute to the progression of Autosomal Dominant Polycystic Kidney Disease in individuals with the genetic mutations, although the primary cause is genetic.

Types Of Autosomal Dominant Polycystic Kidney Disease

There are two types of Autosomal Dominant Polycystic Kidney Disease - ADPKD1 and ADPKD2. ADPKD1 is the more common and severe form, while ADPKD2 is typically milder with a later onset.

Both types cause the formation of fluid-filled cysts in the kidneys, leading to kidney enlargement and potential complications. Regular monitoring and management are essential for individuals with Autosomal Dominant Polycystic Kidney Disease.

Classic Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is the most common form of the condition, characterized by the development of numerous fluid-filled cysts in both kidneys over time, leading to progressive kidney damage.
Early-onset Autosomal Dominant Polycystic Kidney Disease: In this subtype, symptoms and complications of ADPKD manifest at a younger age, typically before the age of 30, resulting in a more aggressive disease course.
Atypical Autosomal Dominant Polycystic Kidney Disease: This rare form of ADPKD may present with unusual features such as bilateral renal cysts, liver cysts, or extrarenal manifestations, making diagnosis and management more complex.

Risk Factors

Risk factors for Autosomal Dominant Polycystic Kidney Disease include having a family history of the condition, being of Caucasian descent, and being between the ages of 30 and 40.

Additionally, high blood pressure and a history of kidney infections or kidney stones can increase the risk. Pregnant women with the disease may also experience complications. Regular monitoring and early detection are crucial.

Family history of Autosomal Dominant Polycystic Kidney Disease increases the risk of inheriting the condition.
Certain genetic mutations, such as mutations in the PKD1 or PKD2 genes, are associated with a higher likelihood of developing Autosomal Dominant Polycystic Kidney Disease.
Gender plays a role, with ADPKD being more commonly diagnosed in females than males.
Age is a risk factor, as symptoms of Autosomal Dominant Polycystic Kidney Disease typically manifest between the ages of 30 and 50.
High blood pressure can accelerate the progression of Autosomal Dominant Polycystic Kidney Disease and increase the risk of complications.

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Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Doctors diagnose Autosomal Dominant Polycystic Kidney Disease through a combination of imaging tests like ultrasounds and MRIs, as well as genetic testing to look for specific gene mutations associated with the disease.

Blood and urine tests may also be done to check kidney function. Early diagnosis is crucial for managing the condition effectively, so it's important to see a healthcare provider if you have a family history of the disease or experience symptoms like pain or high blood pressure.

Ultrasound imaging is commonly used to diagnose Autosomal Dominant Polycystic Kidney Disease by visualizing the presence of cysts in the kidneys.
Genetic testing can identify specific gene mutations associated with Autosomal Dominant Polycystic Kidney Disease, providing a definitive diagnosis.
Magnetic Resonance Imaging (MRI) scans can offer detailed images of the kidneys, aiding in the detection of cysts and assessing disease progression.
Computed Tomography (CT) scans may be utilized to visualize kidney cysts and evaluate complications such as kidney enlargement or hemorrhage.
Blood and urine tests can be performed to assess kidney function and detect abnormalities related to Autosomal Dominant Polycystic Kidney Disease, such as elevated creatinine levels, proteinuria, or hematuria, which can indicate kidney damage or dysfunction.

Treatment for Autosomal Dominant Polycystic Kidney Disease

Treatment options for Autosomal Dominant Polycystic Kidney Disease focus on managing symptoms and preventing complications. Medications can help control blood pressure and pain.

Lifestyle changes such as following a healthy diet and staying active are also important.

In some cases, surgery or dialysis may be necessary. Regular monitoring by healthcare providers is crucial for managing the condition effectively.

Medications such as tolvaptan can help slow the progression of Autosomal Dominant Polycystic Kidney Disease by reducing cyst growth and preserving kidney function.
Lifestyle modifications, including maintaining a healthy blood pressure and avoiding high-sodium foods, can help manage symptoms and slow the advancement of the disease.
Regular monitoring of kidney function through blood tests and imaging studies is essential for early detection and management of Autosomal Dominant Polycystic Kidney Disease.
Surgical interventions, such as cyst drainage or removal, may be necessary in cases where cysts are causing complications such as infection, bleeding, or pain.
Dialysis and kidney transplant are treatment options for advanced stages of Autosomal Dominant Polycystic Kidney Disease, particularly when kidney function deteriorates significantly.

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Frequently Asked Questions

What early signs should I look for with Autosomal Dominant Polycystic Kidney Disease?

High blood pressure, back or side pain, urinary tract infections, blood in urine are common early signs of Autosomal Dominant Polycystic Kidney Disease.

How should I care for myself with Autosomal Dominant Polycystic Kidney Disease—what should I do and avoid?

Manage blood pressure, stay hydrated, avoid high-salt foods, and follow a low-protein diet. Regular check-ups with a kidney specialist are crucial.

What are the potential complications of Autosomal Dominant Polycystic Kidney Disease?

ADPKD can lead to high blood pressure, kidney failure, kidney stones, cyst infections, and aneurysms in the brain.

How is Autosomal Dominant Polycystic Kidney Disease typically managed?

Management includes blood pressure control, pain management, monitoring kidney function, and addressing complications like infections or kidney stones.