I want to know more about ADPKD
This articleis for people who want more detailed information on autosomal dominant polycystic kidney disease (ADPKD). It’s written for people who have been diagnosed with ADPKD and their families and carers. It explains what causes ADPKD, how it’s diagnosed and monitored, its symptoms and complications, and how the disease might progress.
What is ADPKD?
Figure 1: Drawing of the inside of a polycystic kidney (right), showing cysts of different sizes, compared with a normal kidney (left).
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition some people are born with. It causes cysts (balloons of fluid) to develop in your kidneys and sometimes in other organs. Kidney cysts grow over time, becoming anywhere from the size of a pea to a grapefruit (Figure 1).
Over the years, the cysts can damage much of your kidney tissue, and make your kidneys become very large.
ADPKD is not a disease you can catch, nor is it cancer. Most people with ADPKD get many cysts in their kidneys and sometimes their liver by their mid-thirties. In addition, around 1 in 10 people get cysts in their pancreas, but these almost never cause problems.
Kidney cysts can stop your kidneys filtering blood properly. This can result in kidney failure, which can be treated with dialysis or a kidney transplant.
Most people with ADPKD find that their kidneys fail between the age of 40 and 70 years old.
In a few people with ADPKD, the liver grows massively. Liver cysts can cause problems but it’s very unusual for them to cause liver failure. Rarely, a person may require a liver transplant due to their liver becoming extremely large and related symptoms such as pain and infections.
How common is ADPKD?
In the UK, it’s thought that between 1 person in every 1,000 to 2,500 has ADPKD. There could be between 30,000 and 70,000 people with the disease in the UK. ADPKD can affect men and women, and people of all ethnic backgrounds.
How did I get ADPKD?
ADPKD is usually inherited and occurs when faulty genes are passed from a parent to their child.
Genes are the instructions our cells need to make our body parts and organs. We all have two copies of each gene, one from each parent.
ADPKD is caused by a fault — often called a mutation — in a gene called PKD1 or a gene called PKD2.
Most people get the disease when they inherit a faulty copy of PKD1 or PKD2 from a parent with ADPKD.
PKD1 mutations are more common: about 85 out of every 100 people with ADPKD (85%) have this gene fault. The remaining 15 out of every 100 people (15%) have a faulty PKD2 gene.
Sometimes, a new fault in a PKD1 or PKD2 gene occurs by chance in the womb, causing a person to be born with ADPKD despite having two healthy parents.
This is called a ‘spontaneous’ or ‘de novo’ mutation and occurs in about 1 in 10 people with ADPKD.
How is ADPKD diagnosed and monitored?
ADPKD is typically diagnosed using an ultrasound scan, which uses soundwaves to make an image of the inside of your body. Cysts and enlarged kidneys show up on the scan.
After diagnosis, you may have ultrasounds or other scans periodically to check the size of your kidneys.
Blood and urine tests
After diagnosis, you’ll have periodic blood tests to check how well your kidneys are filtering your blood. These measure your estimated glomerular filtration rate (eGFR), which we explain below.
If your kidney function is poor or you’re on dialysis, you’ll have additional lab tests to check the balance of different substances in your blood that might need correction.
A urine test is usually done at the same time to check for other substances such as protein.
Magnetic resonance imaging (MRI)
MRI uses a magnet and radio waves to make images of the inside of your body. You might have this test periodically to check how large your kidneys are and to estimate how much your disease has progressed. Alternatively, an ultrasound or computed tomography (CT) scans might be used.
Your blood pressure will need to be checked regularly so it can be treated if it becomes too high. Blood pressure is a measure of how strongly blood pushes against your artery walls as your heart pumps blood around your body. It’s measured in millimetres of mercury (mmHg) and is recorded as two figures:
- Systolic pressure: the pressure of the blood when your heart beats.
- Diastolic pressure: the pressure of the blood between beats.
For example, if your blood pressure is 135/85, your systolic pressure is 135 mmHg and your diastolic pressure is 85 mmHg. Blood pressure consistently 140/90 mmHg or higher on separate occasions usually indicates high blood pressure.
A blood pressure test uses an air-filled cuff on your upper arm to measure the strength of your pulse. Many patients do their blood pressure monitoring at home.
Genetic testing is not usually required for a diagnosis of ADPKD. However, it might be provided to some patients, especially children where the diagnosis of ADPKD is not certain or in ‘de novo’ cases
You’ll be under the long-term care of a specialist renal (kidney) doctor. You’ll probably need to see them about once a year. Some people may be monitored by a GP if their kidney function is good and there are no complications.
If blood tests show your kidneys are damaged, you may need to see your specialist more frequently. You should also have a range of other experts involved in your care, as needed.
Kidney function is often referred to in terms of ‘estimated glomerular filtration rate’, or eGFR. This is a measure of how many millilitres (ml) of waste fluid your kidneys can filter from your blood in one minute. eGFR is usually calculated using a blood test to measure levels of a waste product called creatinine in your blood.
Your eGFR is roughly equivalent to your remaining kidney function as a percentage. So, an eGFR of 40 ml/min means your kidneys are functioning at around 40% of a healthy kidney.
What problems does ADPKD cause?
Figure 2: The more common symptoms of ADPKD.
High blood pressure
ADPKD usually causes high blood pressure — known as hypertension. This can start in childhood, but most people with ADPKD get it in their 30s to 40s. Sometimes, it’s the first sign of ADPKD. Usually, high blood pressure doesn’t cause symptoms and so it’s picked up only by blood pressure tests.
It’s important to treat high blood pressure, as it can increase your risk of heart disease and might increase the speed of your kidney damage.
Urinary tract infections
Urinary tract infections are quite common among people with ADPKD; about 3—5 in every 10 people get at least one in their lifetime. They’re more common in women..
Kidney and liver cysts can become infected with bacteria, usually from your gut. An infected cyst is commonly quite painful and can cause a high temperature (fever). If you get these symptoms, it’s important to see your doctor right away.
People with ADPKD are more likely than the general population to develop kidney stones, which can be painful. These are usually made of uric acid crystals.
Blood in your urine
About 6 in every 10 people with ADPKD get a bleeding cyst or blood in their urine (haematuria) at some point. Blood in the urine can happen for a variety of reasons, such as a cyst bleeding, a kidney stone, a cyst infection or damage to the kidney caused by a big knock.
Often, your doctor won’t be able to pinpoint the cause. Blood in the urine usually gets better within a week without treatment, but see a GP if symptoms continue longer.
Abdominal pain and bloating
If you have ADPKD, cysts will form in your kidneys and sometimes in your liver, making them grow over time. The larger they get, the more space they’ll take up. Your abdomen (tummy) may become swollen and you may get abdominal or back pain, indigestion or feel full.
Reduced kidney function
Our kidneys have several functions. They filter waste products and extra fluid from our blood and convert them into urine. They also help to control our blood pressure. Having ADPKD can mean your kidneys struggle to filter waste and excess water from your blood.
Although ADPKD causes damage to the kidneys, any remaining healthy tissue will continue to work well, usually for decades. People with reduced kidney function usually only get symptoms when their kidney function becomes quite poor. Your kidney specialist will keep a close eye on your kidney function using blood tests and scans.
A failing kidney can only filter up to a sixth (15%) of the blood that a healthy kidney can.
This is measured as an eGFR of 15 or less ml/min (see earlier for an explanation of eGFR).
Most people with ADPKD find that their kidneys fail between the age of 40 and 70 years old. In advance of this happening, you and your kidney specialist will plan for you to start dialysis or have a kidney transplant.
People with ADPKD are more likely to get a swollen small artery in the brain than people without ADPKD. This is called a brain aneurysm.
There’s a risk that these can bleed on the brain, but they can usually be treated before this happens. Treatment reduces the risk of them leaking.
Some people with ADPKD may also develop diverticular (where bulges form in the bowel wall) or hernias (where part of the bowel comes through the abdominal muscle).
How is ADPKD treated?
There is no cure for ADPKD, but treatments help to reduce your symptoms and lower your risk of complication. For example, different medications can lower your blood pressure, treat infections or help to manage pain.
Some people need to have procedures or surgery, for example to drain and treat a large kidney cyst.
A new drug called tolvaptan (Jinarc®) is suitable for some adults with ADPKD — this can slow the progression of ADPKD.
Tolvaptan reduces the rate at which the kidneys become enlarged by cysts and can help to slow the decline of kidney function. Tolvaptan might be suitable for you if you have reduced kidney function and your ADPKD is progressing rapidly.
If your kidneys fail, you’ll need treatment to take over some of their work. This is known as renal replacement therapy. The best option is usually a kidney transplants, where you receive a donated kidney from a living or deceased donor. If this isn’t possible, or if you would prefer, you could have dialysis.
Haemodialysis uses a machine to filter your blood, whereas peritoneal dialysis uses a special fluid placed in your abdomen to absorb waste.
A kidney transplant will do about half (50%) of the work of a healthy kidney, while dialysis will do about one tenth (10%). Even a 10% increase in function will be enough to improve some of your symptoms.
How will ADPKD affect my life?
Receiving a diagnosis of ADPKD can be a shock, but it doesn’t mean you need to change your life fundamentally. It’s common to experience decades of good health after diagnosis before ADPKD has a physical impact.
People with ADPKD are usually still able to work, have children, go on holiday, keeping active and drink alcohol if they wish.
Most adults with early ADPKD experience symptoms occasionally, such as back pain and feeling tired. These are often associated with a particular problem (such as an infection) and clear up with treatment. When symptoms occur, they can make it harder to work and keep active.
As your kidney health falls, you may have some restrictions on your diet and other aspects of your life (e.g. being advised to avoid rougher sports). If your kidneys fail and you start dialysis, this is likely to have a greater impact on your day-to-day life, due to the time (and possibly travel) needed for dialysis sessions.
You don’t have to tell your employer that you have ADPKD. However, if you explain how your ADPKD affects you, your employer can make reasonable adjustments to help you do your job. For more information on how employers should support people with ADPKD, see our factsheet PKD and Employment.
When taking out insurance policies, you’ll be asked to disclose existing health conditions such as ADPKD, especially if the policy is long-term (e.g. critical illness cover).
However, when you take out some short-term insurance policies, insurers might not ask detailed questions about your health. It’s still very important that you check your policy carefully — if you need to make a claim and it relates to pre-existing ADPKD (e.g. becoming unwell on holiday), you might not be covered. See the Money Advice Service for advice on insurance.
When diagnosed with ADPKD, you may need to tell your car insurance provider, but not the DVLA. However, if you drive a bus, coach or lorry, you need to inform the DVLA about your kidney disease.
There are specific situations where you may need to stop driving for a while, and/or inform the DVLA, e.g. if you have a brain aneurysm or are having surgery or dialysis. Ask your doctor for advice.
People diagnosed with ADPKD often initially feel loss, uncertainty and fear. You may feel anxious or depressed too. Try to acknowledge these feelings and seek support.
The PKD Charity offers a range of support services or you may like to call the PKD Charity Helpline to speak to someone with first-hand experience of PKD.
What can I do to help my kidneys?
There are things you can do to help to protect your kidneys and stay as healthy as possible:
Smoking can increase the speed at which your ADPKD progresses and damages your kidneys. It is also bad for your general health.
Take your blood pressure medication
If you have high blood pressure, it’s important to control it. High blood pressure increases the chance of having a heart attack or bleed on the brain (intracranial haemorrhage).
It can also cause your ADPKD to progress faster. Blood pressure can be treated with lifestyle changes and medications. Read more about blood pressure.
There is no recommended special diet that people with ADPKD should follow, but a balanced diet is important for everyone for controlling weight.
Being overweight or obese may lead to a faster decline in your kidney function and can increase your risk of high blood pressure or cardiovascular problems.
Limit how much salt you eat because salt makes high blood pressure worse and may increase the speed that your kidney function declines.
Regular exercise is an important part of a healthy lifestyle because it helps to control your weight and blood pressure.
There haven’t been any studies proving that drinking extra fluid slows the growth of kidney cysts.
For the moment, kidney experts recommend that you drink when you’re thirsty, but not excessively.
Use pain meds other than NSAIDs
Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, are commonly used for pain and inflammation. However, using them repeatedly or for a long time can damage the kidneys.
Long term use is generally not recommended for people with ADPKD, particularly if your kidney function is already impaired.
Ask your doctor or pharmacist to suggest safer alternatives for you.
What is the chance of my child having ADPKD?
People with ADPKD have one normal and one faulty copy of a PKD gene. Which gene copy your child inherits is down to chance.
If you have ADPKD, there is a one in two (50%) chance you’ll pass the faulty gene to your child. If they inherit the faulty gene, they’ll have ADPKD too. This is known as a ‘dominant inheritance’.
Figure 3: Inheritance of ADPKD.
The diagram (Figure 3) shows each parent’s chromosomes (in grey) that carry a PKD gene, with the normal PKD1 or PKD2 gene in green and the faulty PKD1 or PKD2 gene in purple. The child will inherit one of these chromosomes from the father and one from the mother.
The lower half of the diagram shows the different ways that the parents’ genes could be passed to their child. In the scenario on the left, the child inherits the faulty gene (purple) from the affected parent, and a normal gene from the other parent. This child will have ADPKD. In the scenario on the right, the child inherits a normal gene (green) from each parent and will not have ADPKD.
You can read more about the genes involved in ADPKD and how you can be tested for them in our fact sheet Genetic counselling and genetic testing in ADPKD.
More from the PKD Charity
You can find support and further information about ADPKD and living with the disease on the PKD Charity’s website:
Information from other organisations
You might find the following organisations and websites useful:
- Kidney Research UK has information on the latest research into all forms of kidney disease.
- Kidney Care UK provides grants and other financial support to all kidney patients.
- The National Kidney Federation has local kidney patient groups associated with renal units (kidney treatment centres) around the UK.
- NHS Choices has health information on a wide range of topics.
Autors and contributors
Written by Hannah Bridges, independent medical writer, HB
Health Comms Limited, in 2020.
With thanks to all the people affected by ADPKD who contributed to this publication.
Published by the PKD Charity
The PKD Charity followed the Information Standard process in reviewing the information on this page.
Disclaimer: We have made every effort to ensure that the information in this publication is correct. We do not accept liability for any errors or omissions. The law and government regulations may change. Be sure to seek local advice from the sources listed.