Polycystic Kidney Disease: Symptoms, Causes & Treatment

Janis

By Janis | Updated January 8, 2024

Polycystic Kidney Disease is a serious condition. It involves fluid-filled cysts forming in the kidneys, typically resulting from an inherited disorder. 

These cysts can vary in size and grow quite large over time, leading to kidney enlargement, damage, and eventual loss of function.

This inherited condition affects around 500,000 people in the United States and, if not appropriately managed, can result in life-threatening complications, including high blood pressure and the eventual need for dialysis or a kidney transplant.

Diagnosis of PKD involves imaging techniques such as CT scans or MRI scans, which generate cross-sectional views of the kidneys, allowing doctors to analyze and evaluate any cysts. Early diagnosis and proper management can delay the progression of the disease and help prevent complications. 

Treatment options for PKD include medications for symptom management, kidney dialysis, and, in some cases, kidney transplantation.

Symptoms of Cysts in the Kidneys

This condition typically presents several symptoms that can range from mild to severe. However, an individual might only experience symptoms once they’re adults, and, even then, the symptoms may initially be subtle and easily ignored. 

Understanding these symptoms can help in early diagnosis, enabling more effective management of the condition.

High Blood Pressure

High blood pressure is a frequent symptom in individuals with Polycystic Kidney Disease (PKD). Elevated blood pressure can exacerbate kidney damage, making early control crucial.

Pain in the Sides and Back

Back and flank pain are common complaints in individuals with Polycystic Kidney Disease. 

These symptoms usually arise from enlarged kidneys or cysts pressing against other organs.

Blood in the Urine

Blood in the urine, or hematuria, is a common symptom associated with Polycystic Kidney Disease. 

The presence of blood may indicate cysts in the kidneys have burst or are infected.

Stomach Fullness and Pain

Some individuals with PKD also report a feeling of fullness or increased size of their abdomen as a result of the enlarged kidneys. 

This can lead to discomfort or pain in the abdominal area. 

Headaches

In addition, headaches are a frequently reported symptom in individuals with Polycystic Kidney Disease. 

They are often linked to elevated blood pressure caused by reduced kidney function.

PKD Types and Causes

Polycystic Kidney Disease (PKD) is primarily a genetic disorder caused by mutations in specific genes. 

Classified into two major forms: Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD), each type is determined by the pattern of inheritance and the gene mutations responsible for the disease.

Autosomal Dominant PKD

ADPKD is the most common form of PKD, affecting around 1 in every 400 to 1,000 people in the United States. 

Caused by a genetic mutation in either the PKD1 or PKD2 gene, ADPKD develops symptoms that usually appear between the ages of 30 and 50, but they can sometimes be found in children as well.

Autosomal dominant is the inheritance pattern for ADPKD, which implies there is a 50% chance a child develops the condition if one parent has the disease. 

This form of PKD often progresses to kidney failure by middle age or later in life.

Autosomal Recessive PKD

ARPKD (also known as infantile PKD) is rare, occurring in 1 in 20,000 to 40,000 births caused by a mutation in the PKHD1 gene. 

The symptoms of ARPKD usually appear during infancy or childhood, and it generally affects the liver and kidneys. The inheritance pattern for ARPKD is autosomal recessive, meaning that a child needs to inherit the mutated gene from both parents to develop the disease. 

If both parents are carriers of the mutated gene, there is a 25% chance their child will have ARPKD, a 50% chance the child will be a carrier and a 25% chance the child will not inherit the mutation.

Medically Confirming the Condition

The diagnosis of Polycystic Kidney Disease (PKD) typically involves a combination of physical examination, review of family medical history, and imaging tests.

Each imaging test has its advantages and may be used selectively based on the patient’s specific needs.

Identifying Tests

Diagnosing Polycystic Kidney Disease (PKD) involves a combination of blood tests, urine tests, and genetic testing. 

Blood Test

These are primarily used to assess kidney function by measuring creatinine and urea levels in the blood.

Urine Test

Urine tests are commonly used in the diagnosis of Polycystic Kidney Disease to identify abnormalities such as blood or protein in the urine.

These signs can indicate impaired kidney function or infection.

DNA Test

Genetic testing plays a pivotal role in diagnosing Polycystic Kidney Disease, particularly in confirming the condition in those with a family history. 

It identifies mutations in the genes linked to the disease.

Imaging Tests

Imaging tests play a crucial role in diagnosing PKD and monitoring its progression. Several imaging techniques can detect the presence, size, and number of cysts in the kidneys:

Ultrasound 

This non-invasive test uses high-frequency sound waves to create images of the kidneys. 

It is often the first test performed in diagnosing PKD.

CT Scan 

A CT scan (computed tomography) takes X-ray images of the kidneys from various angles, providing a detailed view of their structure. 

It can be useful in detecting cysts and assessing the extent of kidney damage.

MRI Scan 

An MRI scan (magnetic resonance imaging) uses magnetic fields and radio waves to generate detailed, cross-sectional images of the kidneys. It can help accurately measure kidney cysts and monitor their growth over time.

Complications Related to Polycystic Kidneys

Various complications can impact the kidneys and other organs of individuals with Polycystic Kidney Disease (PKD). In this section, we will discuss the main complications related to PKD and their impacts on the body.

Kidney Failure 

PKD can cause cysts to grow in the kidneys, leading to a decline in kidney function and, eventually, kidney failure. 

This occurs when the kidneys can no longer filter waste from the blood effectively and require dialysis or a kidney transplant.

Urinary Tract Infections 

Polycystic Kidney Disease increases the risk of developing urinary tract infections (UTIs) and kidney infections, which can further damage kidney function if not treated promptly.

The presence of cysts can obstruct urinary flow, providing a conducive environment for bacterial growth.

Kidney Stones

PKD patients may experience kidney stones, which can cause severe pain and affect overall kidney function.

Cysts in the kidneys can disrupt the organ’s normal functions, leading to mineral imbalances conducive to stone formation.

Heart Diseases

PKD patients have an increased risk of developing heart problems, such as a floppy valve in the heart. This can contribute to high blood pressure and other cardiovascular issues.

In addition, approximately 25% of all PKD patients develop Mitral Valve Prolapse (floppy heart valve) and experience pain along with a fluttering or a pounding sensation in the chest.

Brain Aneurysms and Stroke

PKD can lead to problems with blood vessels in the brain, increasing the risk of stroke, particularly in those with autosomal dominant PKD.

This includes aneurysms, which can form in the blood vessels of the brain, increasing the risk of a life-threatening rupture.

Effects on Other Organs

PKD not only affects the kidneys but can also have an impact on other organs. 

Polycystic Kidney Disease may also cause complications in the colon, such as diverticulosis, which is the formation of small pouches in the colon’s lining. This can lead to abdominal pain, inflammation, and infection if not managed carefully.

Cysts can form in the liver, leading to liver cysts, and in some cases, they may develop in the pancreas and other organs as well. These cysts can cause pain and complications in the affected organs.

Polycystic Kidney Disease in Particular Populations

Polycystic Kidney Disease (PKD) can occur in individuals of any age, gender, or race, but the disease presentation may vary. 

PKD in Women

Polycystic Kidney Disease (PKD) affects both men and women. However, women with PKD may experience unique challenges during pregnancy. 

It is important for women with PKD to consult with their healthcare team before becoming pregnant, as the disease can increase the risk of pregnancy complications, such as preeclampsia and preterm labor.

Preeclampsia is a condition characterized by high blood pressure and damage to the organs, usually the liver and kidneys, during pregnancy. 

Women with PKD are at a higher risk of developing preeclampsia, which can adversely affect both the mother’s and the baby’s health. Monitoring blood pressure and kidney function before and during pregnancy is crucial for women with PKD.

PKD and Infants

Polycystic Kidney Disease can also affect infants. In some cases, PKD can be diagnosed in infants before birth through prenatal testing. Symptoms of PKD in infants could include enlarged kidneys, urinary tract infections, and breathing difficulties.

It is important for parents to be aware of the possible risk factors, so they can discuss concerns with their healthcare provider.

Treatment Options

While there is no cure for PKD, treatment approaches for PKD focus on managing symptoms and slowing down the cyst growth rate. 

Lifestyle modifications such as low-sodium diets, regular exercise, and blood pressure management can help.

Lifestyle Modification

A key aspect of managing Polycystic Kidney Disease (PKD) is adopting a healthy lifestyle. 

Food Choices and Meal Planning

Adopting a low-salt diet is essential to managing PKD. High sodium intake can lead to fluid retention and increased blood pressure, which can further damage the kidneys. 

Focus on consuming unprocessed, whole foods with nutrient-rich fruits and vegetables and avoiding processed, high-salt foods.

Regular Exercise 

Regular physical activity is important for maintaining a healthy weight and reducing stress levels. 

Engage in moderate exercise like walking, swimming, or cycling, but consult your doctor before starting new fitness routines.

Achieving a Healthy Weight 

Achieving and maintaining a healthy weight can help reduce blood pressure and prevent further kidney damage. 

Consult your healthcare provider for tailored weight management recommendations.

Quit Smoking 

Smoking can worsen kidney function and contribute to high blood pressure. 

Quitting smoking is essential for preventing further kidney damage and promoting overall health.

Reduce Stress 

Achieving a balanced lifestyle and managing stress through relaxation techniques or mindfulness can help improve overall well-being and lessen the impact of PKD on daily life. Elevated stress levels can indirectly affect kidney function by raising blood pressure.

Techniques such as mindfulness, yoga, and deep-breathing exercises may assist in stress reduction. 

Medication and Therapies

Several medications and therapies can help manage the symptoms and complications associated with Polycystic Kidney Disease (PKD). 

Blood Pressure Control

One of the primary goals in treating PKD is to maintain adequate blood pressure control. 

Doctors may prescribe blood pressure medications such as angiotensin-converting enzyme (ACE) inhibitors or angiotensin II receptor blockers (ARBs) to achieve this goal.

Pain Medication

For pain management, pain medication like over-the-counter analgesics, nonsteroidal anti-inflammatory drugs (NSAIDs), or prescription medications may be recommended, depending on the severity of the pain. 

However, patients should consult with their nephrologist before taking any pain medication to ensure it’s safe for their kidneys.

Medication that Delays Progression

There are medications specifically approved for the treatment of PKD in adults at risk of rapidly progressing kidney disease. 

These medications work by slowing the growth of cysts and delaying the decline in kidney function, ultimately preserving kidney health for a longer period. However, usage should be closely monitored by a healthcare professional, as it may have side effects that require medical attention.

Dialysis Treatment

For those with kidney failure due to PKD, dialysis can help in filtering wastes and excess fluids from the blood. Two dialysis methods are available: hemodialysis and peritoneal dialysis. 

Hemodialysis utilizes a machine to filter the blood, whereas peritoneal dialysis uses the lining of the abdomen to execute the filtration process. The choice between the two depends on the patient’s medical condition, lifestyle, and personal preferences.

Treating Infections 

People with PKD are at a greater risk of developing kidney and urinary tract infections.

Promptly addressing these infections with appropriate antibiotics can help prevent further complications.

Kidney Surgeries

In some cases, surgical interventions may be necessary to manage complications in patients with PKD. 

Cyst Drainage

For instance, larger kidney cysts causing pain or infection may be drained with the help of a needle under ultrasound or CT scan. Percutaneous cyst aspiration is a minimally invasive procedure often considered for symptomatic cysts in Polycystic Kidney Disease. 

It involves using a needle to drain fluid from enlarged kidney cysts. Though effective for immediate relief, this method is generally not a long-term solution, as cysts can be refilled. 

Kidney Transplant

Ultimately, for those with advanced kidney failure due to PKD, a kidney transplant can be a life-saving option. 

This procedure involves helping the damaged kidneys function by attaching a healthy donor kidney. Kidney transplants can significantly improve the quality of life and survival chances for PKD patients. 

However, it’s essential to consider factors such as the availability of a suitable donor, the patient’s overall health, and the potential risks and benefits involved in the transplant process.

PKD Prevention

Preventing PKD is challenging due to its genetic nature. However, individuals with a family history of PKD should be proactive about undergoing genetic counseling and testing. 

Additionally, maintaining a healthy lifestyle with lifestyle choices such as regular exercise, a balanced diet, and good hydration can help support overall kidney health.

Frequently Asked Questions

What are the common symptoms of PKD?

Characterized by the growth of fluid-filled cysts in the kidneys, Polycystic Kidney Disease (PKD) manifests in symptoms that include pain in the back or sides, headache, and urinary tract infections. 

Other symptoms may involve high blood pressure, kidney stones, and frequent urination. 

How is polycystic kidney disease diagnosed?

Confirmation of PKD involves tests that identify the presence, size, and number of cysts in the individual’s kidney using imaging tests such as ultrasound, CT scan, or MRI. 

Genetic testing can also be used to confirm the diagnosis, especially in cases where a family history of PKD is present.

What are the main treatment options for PKD?

There is no cure for PKD, but treatment aims to manage symptoms and prevent complications. High blood pressure can be controlled with medications, and pain management may involve over-the-counter pain relievers or prescription drugs.

One FDA-approved medication for PKD slows down the growth of kidney cysts. It’s crucial to note that this medication may cause serious liver injury and can interact with other medications.

How can PKD be prevented?

Since PKD is a genetic disease, there is no definitive way to prevent it. 

However, maintaining a healthy lifestyle with regular exercise, a balanced diet, and managing blood pressure can help slow down the progression of the disease and reduce the risk of complications.

What are the complications associated with PKD?

Complications of PKD include an increased risk of kidney infections, kidney stones, and kidney failure. 

Additionally, there is a possibility that other organs, like the liver, may develop cysts. High blood pressure, if not well-managed, can potentially lead to heart or blood vessel problems.