Polycystic kidney disease: symptoms, causes, diagnosis, treatment and life expectancy

Polycystic kidney disease (PKD) is an inherited condition in which numerous fluid-filled cysts develop in the kidneys. As these cysts grow and multiply, they can enlarge the kidneys and gradually affect their ability to function. PKD can also affect organs outside the kidneys, particularly the liver, and may increase the risk of certain cardiovascular and brain-related complications.

One of the challenging things about polycystic kidney disease is that it can remain unnoticed for years. Some people discover they have PKD during an ultrasound or other imaging test performed for an unrelated reason. Others first seek medical attention because of high blood pressure, blood in the urine, back or side pain, kidney stones or recurrent urinary infections.

PKD is not the same as having one or two simple kidney cysts. Simple cysts are relatively common with ageing and usually do not cause significant health problems. PKD, on the other hand, is a genetic disorder that can progressively affect kidney function.

What is polycystic kidney disease?

Polycystic kidney disease is a genetic disorder that causes multiple cysts to form in the kidneys. The cysts contain fluid and can vary considerably in size. Over time, they may increase the size of the kidneys and replace healthy kidney tissue, reducing kidney function.

There are two major types:

• Autosomal dominant polycystic kidney disease (ADPKD): The most common form, usually diagnosed during adulthood.
• Autosomal recessive polycystic kidney disease (ARPKD): Much rarer and generally becomes apparent before birth, during infancy or childhood.

ADPKD is caused by changes in genes such as PKD1 and PKD2. ARPKD is associated primarily with changes in the PKHD1 gene.

What is the main cause of polycystic kidney disease?

The main cause of polycystic kidney disease is a gene mutation or genetic defect. In most cases, the altered gene is inherited from a parent.

In ADPKD, only one parent needs to carry the disease-causing gene for it to potentially be passed to a child. When one parent has ADPKD, each child has a 50% chance of inheriting the altered gene.

In ARPKD, both parents generally carry an altered gene, although they may not have symptoms themselves. Each pregnancy has a 25% chance of resulting in a child with ARPKD.

Occasionally, PKD develops because of a new genetic mutation rather than inheritance from a parent.

What are the first signs of polycystic kidney disease?

Early PKD can have no noticeable symptoms at all. This is particularly common with ADPKD, which may remain silent until adulthood.

When symptoms do appear, some of the first signs can include:

• High blood pressure
• Pain or discomfort in the back, side or abdomen
• Blood in the urine
• Headaches
• Recurrent urinary tract or kidney infections
• Kidney stones
• A feeling of fullness or abdominal enlargement

Blood in the urine, known medically as haematuria, can occur when a cyst bleeds. Pain may result from cyst growth, bleeding, infection, kidney stones or stretching of tissues around an enlarged kidney.

Because early PKD may cause no symptoms, people with a close family history should discuss screening with a healthcare professional rather than waiting for symptoms to develop.

What are the symptoms of polycystic kidney disease?

Symptoms vary from person to person and often depend on how advanced the disease is.

Common symptoms and complications include:

• High blood pressure
• Back, side or abdominal pain
• Blood in the urine
• Kidney stones
• Urinary tract infections
• Kidney infections
• Enlarged kidneys
• Abdominal fullness
• Declining kidney function
• Kidney failure

PKD can also affect organs outside the kidneys. Liver cysts are common, while cysts can sometimes occur in the pancreas and other organs. Some people may develop heart valve abnormalities or have an increased risk of intracranial aneurysms.

At what age is polycystic kidney disease diagnosed?

There is no single age at which PKD is diagnosed.

ADPKD is usually diagnosed in adulthood, commonly between the ages of 30 and 50, although it can be detected earlier or later. Some people are diagnosed before symptoms appear because they have a parent or sibling with PKD.

ARPKD is different. It can be detected during pregnancy or shortly after birth and may cause enlarged kidneys, poor kidney function, breathing difficulties and growth problems in affected infants. Some milder cases may not become apparent until childhood or even adulthood.

Who is most at risk for PKD?

The biggest risk factor for PKD is having a family history of the disease.

People with a parent, sibling or child who has PKD should talk to a healthcare professional about whether testing is appropriate. PKD affects both men and women and occurs across populations worldwide.

Having high blood pressure does not cause inherited PKD, but hypertension is a common complication and can accelerate kidney damage in people who already have the condition.

How to confirm polycystic kidney disease?

Doctors usually confirm PKD using a combination of medical history, family history, imaging tests and, in selected cases, genetic testing.

Ultrasound

A kidney ultrasound is often the first imaging test used because it is non-invasive, widely available and does not involve radiation. It can identify multiple kidney cysts and assess kidney size.

However, a negative ultrasound does not always exclude ADPKD in younger people, particularly when the family history is strong.

CT or MRI

CT or MRI may provide more detailed information about the number and size of cysts and the structure of the kidneys. MRI can also be useful when doctors need a more accurate assessment of kidney volume and disease progression.

Genetic testing

Genetic testing can identify disease-causing mutations and may be particularly useful when the imaging findings are unclear, when there is no obvious family history, or for certain family-planning situations.

Blood and urine tests are also important. Tests such as serum creatinine and estimated glomerular filtration rate (eGFR) help assess kidney function, while urine testing can detect blood or protein.

Is polycystic kidney disease serious?

PKD can be serious, but its severity varies considerably.

Some people retain good kidney function for many years, while others develop progressive chronic kidney disease and eventually require dialysis or kidney transplantation.

High blood pressure is particularly important because it can both result from PKD and contribute to further kidney damage. Other possible complications include cyst infections, kidney stones, bleeding into cysts, liver cysts, heart valve problems and, in selected people, intracranial aneurysms.

The good news is that early diagnosis and careful management can help reduce complications and protect kidney function.

What are the stages of polycystic kidney disease?

PKD itself does not have a universally accepted five-stage system in the same way that chronic kidney disease does.

Instead, doctors often assess how advanced the underlying chronic kidney disease is, primarily using eGFR:

• Stage 1: eGFR 90 or higher, with evidence of kidney damage
• Stage 2: eGFR 60–89
• Stage 3a: eGFR 45–59
• Stage 3b: eGFR 30–44
• Stage 4: eGFR 15–29
• Stage 5: eGFR below 15, generally representing kidney failure

For ADPKD, doctors may also assess kidney size, total kidney volume, rate of eGFR decline, age, genetics and other factors to determine whether the disease is likely to progress rapidly. The 2025 KDIGO guideline provides updated guidance for assessing prognosis and treatment of ADPKD.

What is the best treatment for polycystic kidney disease?

There is currently no cure that removes the underlying genetic cause of PKD, so treatment focuses on slowing disease progression, protecting kidney function and managing complications.

Treatment may include:

Controlling blood pressure

Keeping blood pressure under control is one of the most important parts of PKD management. ACE inhibitors or angiotensin receptor blockers (ARBs) may be prescribed when appropriate.

Tolvaptan for selected adults with ADPKD

Tolvaptan is a disease-modifying medicine that can slow the decline in kidney function in adults with ADPKD who are at risk of rapid progression. It is not appropriate for everyone and requires careful medical supervision and monitoring because of potential adverse effects, including liver injury.

Managing pain and infections

Kidney stones, cyst infections, bleeding cysts and cyst growth can cause pain. Treatment depends on the underlying cause. Urinary and kidney infections need appropriate medical treatment.

Treating advanced kidney failure

If PKD progresses to kidney failure, treatment options include dialysis or kidney transplantation.

Can you reverse polycystic kidneys?

At present, polycystic kidneys cannot be reversed to normal simply through diet, exercise or medication.

Existing cysts generally cannot be made to disappear completely. However, treatment can slow disease progression and address complications. In selected cases, procedures or surgery may be considered for severe cyst-related pain or other complications, but these do not cure the underlying genetic disease.

This is why early diagnosis and long-term monitoring are so important.

What foods should I avoid if I have polycystic kidney disease?

There is no single PKD diet that works identically for everyone. However, reducing sodium (salt) is particularly important because it can help control blood pressure.

It is generally sensible to limit:

• Highly processed and packaged foods
• Instant noodles and salty snacks
• Pickles and heavily salted foods
• Processed meats
• Fast food
• Foods with large amounts of added salt
• Excessively high-protein diets unless specifically recommended

A diet rich in vegetables, fruits, whole grains and minimally processed foods may support overall kidney and cardiovascular health. NIDDK notes that people with PKD may need additional dietary adjustments involving protein, potassium or phosphorus as kidney disease progresses.

Importantly, potassium and phosphorus restrictions should not automatically be imposed on everyone with PKD. They depend on kidney function and blood test results. A renal dietitian can create an appropriate eating plan.

How much water should you drink with polycystic kidney disease?

Hydration is important in PKD, but drinking an excessive amount of water is not automatically better.

The 2025 KDIGO guideline suggests that adults with ADPKD who have an eGFR of at least 30 mL/min/1.73 m² and no contraindication to increased fluid intake may aim for approximately 2–3 litres of water intake per day, spread throughout the day. This recommendation is not suitable for everyone. People with fluid restrictions, low sodium levels, heart failure or certain other conditions may need a different plan.

People taking tolvaptan need particular guidance because the medication increases urine production and therefore increases fluid requirements.

Do not force yourself to drink extremely large quantities of water without medical advice. Excessive water intake can cause dangerous low sodium levels.

Can you survive polycystic kidney disease?

Yes. Many people with PKD live for decades with the condition.

PKD is a chronic genetic disease, but its progression is highly variable. Some people develop significant kidney disease earlier than others. With appropriate monitoring and treatment, complications can often be managed for many years.

If kidney failure eventually develops, dialysis and kidney transplantation can replace the kidney’s essential filtering functions.

What is the PKD life expectancy?

There is no single PKD life expectancy that applies to everyone.

The outlook depends on the type of PKD, genetic factors, age at diagnosis, blood pressure, kidney function, rate of disease progression and other health conditions.

ADPKD can eventually lead to kidney failure, but the timing varies substantially. Some people progress relatively quickly, while others maintain useful kidney function well into older age. Factors such as uncontrolled hypertension and faster loss of eGFR can indicate a higher risk of progression.

Regular monitoring gives doctors an opportunity to identify declining kidney function early and adjust treatment.

Is there any cure for polycystic kidneys?

Currently, there is no definitive cure for inherited PKD.

Treatment can, however, make a meaningful difference. Controlling blood pressure, maintaining an appropriate fluid intake, following a kidney-friendly diet, avoiding kidney-harming habits and medicines when possible, treating infections promptly and using disease-modifying treatment when appropriate can all help protect kidney function.

For people who reach kidney failure, transplantation can provide a functioning replacement kidney and is an established treatment option.

When should you see a doctor?

You should speak with a healthcare professional if you have:

• Blood in your urine
• Persistent or unexplained back, side or abdominal pain
• Repeated urinary or kidney infections
• Unexplained high blood pressure, particularly at a young age
• Kidney stones
• A close family member with PKD
• Abnormal kidney function tests

A sudden, severe headache in someone known to have PKD requires urgent medical assessment because PKD is associated with an increased risk of intracranial aneurysms.

Frequently asked questions about polycystic kidney disease

Is PKD inherited from a parent?

Usually, yes. ADPKD is commonly inherited from one parent, while ARPKD generally requires disease-causing variants from both parents. Rarely, PKD can result from a new genetic mutation.

Can people with PKD live a normal life?

Many people can maintain an active and fulfilling life for years, particularly when blood pressure and kidney function are monitored carefully. The impact of PKD varies considerably from one person to another.

Does having kidney cysts always mean you have PKD?

No. Simple kidney cysts are common, especially with increasing age, and are different from inherited PKD. PKD generally involves multiple cysts and characteristic kidney changes, often alongside a relevant family or genetic history.

Can PKD be detected before symptoms appear?

Yes. Imaging and, in selected cases, genetic testing can identify PKD before symptoms develop. This can be particularly important for people with a strong family history.

Can lifestyle changes cure PKD?

No. Lifestyle changes cannot remove the genetic cause of PKD. However, healthy eating, appropriate hydration, regular physical activity, maintaining a healthy weight and controlling blood pressure can support kidney and cardiovascular health.

Does PKD always lead to kidney failure?

No. PKD can cause progressive kidney damage, but the rate of progression varies. Some people develop kidney failure, while others maintain kidney function for much longer.

The importance of early diagnosis

Polycystic kidney disease can be easy to overlook because symptoms may not appear until substantial cyst growth has occurred. This is especially true for ADPKD.

If you have a family history of PKD, unexplained high blood pressure, blood in the urine or symptoms suggestive of kidney disease, discussing appropriate testing with a healthcare professional is worthwhile.

An ultrasound of the kidneys can provide important information about kidney structure and cysts, while blood and urine tests help assess kidney function. More detailed imaging or genetic testing may be recommended when necessary.

Early identification does not mean that PKD can be cured, but it allows patients and doctors to monitor kidney function, manage blood pressure, address complications and consider treatments that may slow progression.

In short, polycystic kidney disease is a lifelong genetic condition, but it does not mean that kidney failure is inevitable or that a person cannot live a long and meaningful life. The earlier the condition is identified and appropriately managed, the better the opportunity to protect kidney health over time.

To consult a Nephrologist for treatment of Polycystic Kidney Disease at Sparsh Diagnostic Centre, call our helpline number 9830117733.

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Disclaimer:

No content on this site, regardless of date, should ever be used as a substitute for direct medical advice from your doctor or other qualified clinician.

Additional reading on Polycystic Kidney Disease:

• https://www.hopkinsmedicine.org/health/conditions-and-diseases/polycystic-kidney-disease