We fund research that will increase understanding of polycystic kidney disease (PKD) and help improve the management and treatment of everyone affected by PKD.
This information is for people who have been offered a test for autosomal recessive polycystic kidney disease (ARPKD) for themselves or their child. It’s also for their families and friends.
We explain the gene changes that cause ARPKD and how they’re inherited. We also explain how genetic testing is done and what genetic counselling is.
Getting new information on ARPKD can cause worry, especially if you’ve just been told your child might have ARPKD. Please call our helpline on 0300 111 1234 if you’d like to talk to someone about ARPKD.
Genes are the instructions the cells in our bodies need to grow, divide and do their jobs. Genes are made of DNA — a long chain of molecules linked together to form a code. These codes act like recipes, telling our cells how to make different proteins. Proteins do most the work in our bodies.
You have thousands of genes. You have 2 copies of each gene, 1 from each parent.
ARPKD is a rare disease that’s inherited. This means that the genes causing it can be passed to a child from their parents. You can’t catch ARPKD, and it’s not cancer.
ARPKD is usually caused by a change in a gene called PKHD1. Much less often, people with ARPKD have a change in the DZIP1L or CYS1 gene. To keep things simple, we’ll focus on the PKHD1 gene on this web page. Doctors sometimes call these gene changes ‘mutations’ or ‘variants’.
Remember that we all have 2 copies of each gene. A person needs to have a change causing ARPKD in both of their PKHD1 genes to have ARPKD.
If a person only has one changed PKHD1 gene, this makes them a carrier. They don’t have ARPKD themselves. However, they could pass the changed gene on to their children.
About one in every 70 people in the UK is an ARPKD carrier.
If 2 people who are both ARPKD carriers have a baby, there’s a 1 in 4 chance (25% chance) their baby will have ARPKD. The risk is the same each time they have a child together.
There’s a 2 in 4 (50%) chance that their child will be a carrier.
There’s a 1 in 4 (25%) chance that their child won’t inherit any gene changes that cause ARPKD. This child can’t pass ARPKD on to their own children.
We show this in the diagram below.
The 4 possible outcomes when 2 carriers of ARPKD have a child.
Yes, but the chance is very low.
Most people with ARPKD inherited changed PKHD1 genes from each parent.2 Much less often, a person inherited a changed PKHD1 gene from one parent and a change in their other PKHD1 gene happened by chance.
These new changes can happen in a father’s sperm or mother’s egg. They can also happen after conception (when a sperm fertilizes an egg). These new changes are sometimes called ‘spontaneous mutations’ or ‘de novo mutations’.
Out of 100 people with ARPKD, about 95 to 98 inherited a changed gene from each parent. About 2 to 5 in 100 have a new gene change that happened by chance.
A genetic test can look for gene changes that cause health conditions.
A lab can do the test on any source of DNA. Usually, you give a blood sample. Doctors take other samples for genetic testing before birth — we explain this later.
In a genetics lab, a technician will use a machine called a sequencer to read the person’s DNA code. They’ll check the code for changes linked to ARPKD.
The technician might check the codes of specific genes linked to ARPKD and other kidney conditions. Or they might read a person’s entire DNA code. This is called ‘genomic testing’ (because a whole DNA code is called a genome). The genetics service should explain this to you beforehand.
Before having genetic testing for yourself or your child, you can have genetic counselling. Your GP or kidney doctor can refer you for this.
Genetic counselling is not the same as counselling for mental health issues. You could see a genetic counsellor, a clinical geneticist or a specialist genetic nurse. Some kidney doctors also provide genetic counselling.
They’ll give you information to help you decide whether to have a genetic test.
You’ll talk through:
People who are ARPKD carriers can also get advice on ways to have a child without ARPKD, if they choose.
After genetic counselling, you’ll choose whether you want to go ahead with the test. You don’t have to decide right away.
Expert Christine Patch tells us that having genetic counselling is very individual. People can react differently and make different choices. Your choices might be affected by:
Families often find it hard to talk about genetic conditions and genetic testing. A specialist can give you and your family support on this.
People usually go to their nearest NHS regional genetic centre for genetic counselling. Some centres organize clinics at local hospitals or health centres. This means you won’t need to travel as far.
The signs and symptoms of ARPKD can be similar to some other kidney conditions that cause cysts. Experts say it’s best to do a genetic test if a developing baby (fetus), newborn baby or child has multiple kidney cysts.
You can learn more about signs and symptoms of ARPKD on our pages ARPKD in babies and ARPKD in children and adolescents.
Genetic testing, can be useful in these situations:
Genetic tests for ARPKD are only available on the NHS to people at risk of having (or carrying) ARPKD. These people include:
ARPKD is very rare. Genetic testing is not available to people who aren’t at risk.
If you have a child with ARPKD and want to check whether their brothers or sisters have the disease, they may be able to have genetic testing.
Alternatively, doctors can check for ARPKD using ultrasound scans and a blood pressure check.
If you have a relative with ARPKD but they aren’t your sibling or child, you can’t usually have genetic testing on the NHS. This is because being a carrier rarely matters. The chance of your partner also being a carrier is 1 in 70.
If doctors think your developing baby (fetus) might have ARPKD, you might be able to have them tested for ARPKD during pregnancy. This is usually done between weeks 11 and 20 of pregnancy.
Your pregnancy doctor (obstetrician) will collect a sample of your fetus’s DNA. The two main ways to do this are:
We explain these procedures below. With either procedure, there’s a small risk of losing the pregnancy.
A specialist might also be able to say whether your baby is likely to have ARPKD using an ultrasound scan.
If tests show that your developing baby has ARPKD, you can choose whether to keep or end the pregnancy. This can be an extremely hard decision for parents and support is available. We talk about this on our web page on ARPKD in babies.
Call our helpline on 0300 111 1234 for support and advice. You can also contact us by email at [email protected] or on Facebook messenger.
For amniocentesis, a doctor uses a needle to take a sample of fluid from your womb (the amniotic fluid). They’ll use an ultrasound scan to see where they’re putting the needle. We show this in the picture below.
The test is usually uncomfortable but not painful.
You can usually have this test at weeks 15 to 20 of pregnancy.
The NHS has more information on amniocentesis.
Drawing of amniocentesis. Picture from Creative Commons (Attribution-Share Alike 4.0 International license).
CVS is similar to amniocentesis, but the sample of cells is taken from the placenta [NHS CVS]. Your pregnancy doctor might put the needle through the opening to your womb (cervix) rather than through your abdomen.
The test is usually uncomfortable but not painful.
You can usually have this test at weeks 11 to 14 of pregnancy.
The NHS has more information on CVS.
If you or your child are the first people in your family to have genetic testing for ARPKD, the results could take a couple of months or more. If the gene change running in your family is already known, for example when undergoing genetic testing in pregnancy, your test result might come in 2 weeks. This is because the lab technicians will know which gene change they’re looking for.
If a person has ARPKD, genetic testing can usually find the cause.
For every 100 people with ARPKD who have testing, gene changes causing ARPKD are found in about 70 to 85 people (70–85%).
Here are the possible outcomes in more detail:
There’s also a small chance the lab will find a change in a different gene linked to ARPKD (DZIP1L or CYS1).
If you have a child with ARPKD but genetic testing doesn’t find any gene changes, you might still be able to have testing in future pregnancies. The lab will compare your DNA sample with those taken from your embryos or fetus.
It’s hard for doctors to predict how severe a person’s ARPKD will be based on their genetic test results. This is because people with the same gene change sometimes have different ARPKD symptoms at different ages.
If both PKHD1 genes have changes called ‘truncating mutations’, ARPKD is usually severe. For other PKHD1 changes, doctors can’t always predict how severe ARPKD will be.
In one study, people with changes in the DZIP1L gene had milder ARPKD. They had kidney cysts but no liver cysts.
Your kidney specialist might be able to estimate how severe your baby’s or child’s ARPKD will be based on:
Make sure you understand how accurate their predictions are.
The lab often reads a person’s complete DNA code when they have a genetic test for ARPKD. This is called ‘whole genome sequencing’. Although the machine reads all the DNA, the lab will only look at the genes linked to ARPKD and other kidney conditions.
Your doctor may ask if your (or your child’s) full DNA code can be stored in the National Genomic Research Library. This is done anonymously (meaning your name is not stored in the database). Researchers can ask to use the anonymous data in studies about the diagnosis and treatment of diseases.
You can choose whether or not to agree.
In one study, people with changes in the DZIP1L gene had milder ARPKD. They had kidney cysts but no liver cysts.
Your kidney specialist might be able to estimate how severe your baby’s or child’s ARPKD will be based on:
Make sure you understand how accurate their predictions are.
If you can’t have genetic testing on the NHS, ask your doctor to explain why. It might be that you’re not at risk of having ARPKD.
Some companies offer private genetic testing (meaning it’s not done by the NHS). You need to pay for this yourself or via health insurance. Before using a private company, ask about the expertise of the lab and the doctor analysing the results.
Genetic tests are technical and the results can be hard to understand. There are over 750 different changes in the DNA code that can cause ARPKD. So, it’s important the service is familiar with them.
The 3 genes associated with ARPKD are codes for 3 different proteins:
These 3 proteins are found in cells that line fine tubes in the kidneys. These tubes are where urine (wee) is made.
The proteins are all found in special structures called cilia on the surface of cells. Cilia act like tiny sensors.
Researchers are still working out what jobs these proteins do. It’s possible they help to control how often new cells are made in kidney tubes.
Changes to the DNA code may alter the proteins, stopping them working properly. Sometimes, a DNA change means a protein isn’t made at all.
Experts think cysts might occur when too many cells grow in the kidney tubes. This can make a bulge, which could become a cyst.
Fibrocystin is also found in the liver. When there’s not enough fibrocystin in liver cells, scar tissue can form in the liver (fibrosis).
Original version written by Christine Patch, PhD RN, Reader in Genomic Healthcare, King’s College London, in 2016. Updated by Hannah Bridges, PhD, independent medical writer, HB Health Comms Limited, in 2025. Expert review by Dr Shalabh Srivastava, Consultant Nephrologist, City Hospitals Sunderland and South Tyneside NHS Foundation Trust, UK.
With thanks to all those affected by ARPKD who contributed to this publication.
Ref No: ARPKD.GCT.V2.0
Review Date: September 2029
Disclaimer: This information is primarily for people in the UK. We have made every effort to ensure that the information we provide is correct and up to date. However, it is not a substitute for professional medical advice or a medical examination. We do not promote or recommend any treatment. We do not accept liability for any errors or omissions. Medical information, the law and government regulations change rapidly, so always consult your GP, pharmacist or other medical professional if you have any concerns or before starting any new treatment.
Disclaimer regarding imagery: All photography appearing on this web page is for illustrative purposes only and is freely available via Pexels. The medical history of persons shown is unknown
We welcome feedback on all our health information. If you would like to give feedback about this information, please email [email protected]
If you don't have access to a printer and would like a printed version of this information sheet, or any other PKD Charity information, call the PKD Charity Helpline on 0300 111 1234 (weekdays, 9am-5pm) or email [email protected]
The PKD Charity Helpline offers confidential support and information to anyone affected by PKD, including family, friends, carers, newly diagnosed or those who have lived with the condition for many years.
Transplant surgeon Mr Nicos Kessaris, King's College Hospital, London, discusses dialysis and transplant in ARPKD.
The severity of liver problems in autosomal recessive polycystic kidney disease (ARPKD) can vary from mild impairment to serious complications that can be life-threatening.
For most children with ARPKD, their liver continues to function well. But cysts, infections, fibrosis and other complications can cause a range of symptoms.
Consultant paediatric hepatologist Dr Tassos Grammatikopoulos, King's College Hospital London, explains the impact on the liver of ARPKD.
ARPKD is short for Autosomal Recessive Polycystic Kidney Disease. ARPKD is a rare condition affecting 1 in 20,000 live births, boys and girls equally. It causes enlarged kidneys (with or without cysts), liver enlargement and high blood pressure.
Click the links below to find out more about ARPKD and what to expect if you are at risk of your child inheriting the condition or have a child born with ARPKD.
To find out more about the many ways we offer support for those affected by PKD, please see our Get Help page.
ARPKD is often identified before or soon after birth. This resource explains how the condition can affect babies, including early symptoms, diagnosis, and initial care.
As children grow, the impact of ARPKD can change over time. This resource outlines how the condition may affect childhood and adolescence, including ongoing care and development.
Genetic counselling can help families understand how ARPKD is inherited and what it may mean for future pregnancies. This resource explains testing options and the support available.
ARPKD can affect the liver as well as the kidneys, sometimes leading to complications over time. This resource explains how the liver may be affected and how it is monitored and managed.
Some children with ARPKD may require dialysis or a kidney transplant. This resource explains when these treatments are needed and what families can expect from the process.
This section focuses on the day-to-day experience of living with ARPKD.
To find out more about the many ways we offer support for those affected by PKD, please see our Get Help page.
Preparing for appointments can help you get the most out of your care. This resource offers practical tips to help you feel informed and confident when speaking to healthcare professionals.
This information is for people with polycystic kidney disease (PKD) who are employed or looking for a job in England, Wales or Scotland. Employment law differs in Northern Ireland — please see links near the end of this page for information.
Having PKD might affect your ability to work. For example, you might need time off or need to change your work pattern. On this page we outline the laws on disability and equality that your employer must follow. We also give tips on how to approach issues with your employer.
We understand that if PKD is affecting your ability to work, this can be very stressful. We hope this information helps you. Please also seek personal advice from organizations such as Citizens Advice and the Equality Advisory & Support Service. Their contact details are near the end of this page.
Disclaimer
This webpage aims to give you general tips on employment and PKD but is not a comprehensive overview of equality and employment law. Because of differences in laws, some of the content is not accurate for people living in Northern Ireland. Please seek expert advice for your individual situation.
If PKD is impacting your day-to-day life, you might be classed as disabled. PKD is progressive, meaning it gets worse over the years. It might affect you more, or in different ways, as you get older.
You may need to take planned time off work for medical appointments and procedures. You might also need to take unplanned leave (sick leave) if PKD makes you unwell.
Examples of disability caused by PKD are:
The Equality Act 2010 is British legislation (law) that protects people from discrimination.
Disability means ‘a physical or mental impairment that has a substantial and long-term negative effect on your ability to do normal daily activities’.
Some people with PKD are classed as having a disability.
If you’re discriminated against because of your disability this means someone treats you less favourably than they would treat others because you have a disability.
Under the Equality Act 2010, employers must make ‘reasonable adjustments’ to make sure workers with disabilities are not at a substantial disadvantage when doing their jobs. Examples of reasonable adjustments are altering your work area or letting you come back to work gradually after illness. We give more examples later.
The rules on discrimination at work apply to people on zero-hours contracts. They also apply to self-employed persons (freelancers, consultants and contractors) who are contracted by another company.
The Equality Act 2010 does not apply in Northern Ireland. Contact the Quality Commission for Northern Ireland for information on disability laws in Northern Ireland.
Many employers know what they must do for the Equality Act and are caring and supportive. Others might be less aware of what they should do or might sometimes fail to support employees as needed.
If you feel that your employer doesn’t understand or meet your needs, here are some tips:
Your employer can only support you and think about reasonable adjustments if they understand how PKD affects you. Help them understand. For example, if you have a ‘return to work’ meeting after time off due to PKD, mention that you have PKD and explain what it is.
You could give your employer permission to request a report from your GP about your health and PKD symptoms.
You could also have an occupational health assessment. In this, an occupational health adviser will ask about your health and needs. They’ll make a report for your employer about what would help you.
Let your employer know if you’re happy to do either of these things.
Or, you could ask your manager for a meeting to discuss your health. Explain how PKD affects you at the meeting.
Medical reports from your GP and occupational health can show how PKD affects your work. These reports should give details about your PKD and how it is impacting (or could impact) your work.
Your doctor and occupational health can suggest reasonable adjustments for your employer to think over. They can also confirm whether you’re classed as disabled.
You have the right to see these reports before they go to your employer.
When your employer gets the report, they should arrange a meeting with you to discuss it. If they don’t, ask for one.
Once your employer is aware of your disability, they must consider reasonable adjustments. This is the law. What’s considered ‘reasonable’ will depend on your role and the size of the organization.
For example, a large company may be able to offer you a different role with duties that suit you better. However, a small charity might not have other suitable roles.
Examples of reasonable adjustments for a person with disability caused by PKD are:
Be honest with your employer and tell them what would help you.
If your employer doesn’t understand the Equality Act well and they don’t ask about reasonable adjustments, you could make a request in writing. Include points from your medical report. Write down the reasonable adjustments you would like your employer to formally consider. Hopefully, this will get them to act.
Your employer might not be able to make the reasonable adjustments you or occupational health suggest. If this happens, be open to talking about other ways they can help you.
Example discussion about a reasonable adjustment to hours
Patricia works as a sales manager. Her kidneys don’t work well and this is making her very tired. She asks to reduce her working days from 5 to 4 as a reasonable adjustment. Her employer feels this isn’t possible — they need someone 5 days a week. It would be hard to recruit someone to work the other day.
Example discussion about a reasonable adjustment to hours
Patricia works as a sales manager. Her kidneys don’t work well and this is making her very tired. She asks to reduce her working days from 5 to 4 as a reasonable adjustment. Her employer feels this isn’t possible — they need someone 5 days a week. It would be hard to recruit someone to work the other day.
Patricia and her employer come up with two possible solutions:
Her employer agrees to look into option 1 first.
The Equality Act 2010 and employment law can be hard to understand.
If you’re unsure of your rights on reasonable adjustments, you could ask Citizens Advice in England or Wales or Citizens Advice Scotland.
Or you could ask the Advisory, Conciliation and Arbitration Service (ACAS) to help you and your employer reach an agreement. ACAS helps employers and workers in England, Scotland and Wales. If you’re based in Northern Ireland, the Labour Relations Agency offers a similar service.
If you’re not classed as disabled, there’s no law to say your employer must make adjustments to help you do your job. However, they might be willing to make changes.
A good place to start is to explain:
It’s possible that you meet the criteria for disability even if you don’t see yourself as disabled. For example, long-term extreme tiredness or difficulty sleeping can count as a disability.
Check the Citizens Advice website to see if you qualify as disabled under the Equality Act 2010. There are separate pages for people in England, Wales, and Scotland. Remember, this act doesn’t apply in Northern Ireland – contact the Quality Commission for Northern Ireland for more information.
In England, there are 2 main types of sick pay for employees:
You may also be able to claim sick pay if you’re working reduced hours or days while recovering from surgery or long-term illness.
You can’t get statutory sick pay if you’re self-employed.
You can get statutory sick pay if you work part-time, are on a zero-hours contract or are on a fixed-term contract if:
Find out more on the Citizens Advice websites for England, Scotland, and Wales.
If you’ve run out of sick pay, you may be able to claim Employment Support Allowance in England. You can start the claim 3 months before your sick pay is due to run out, as it takes time to set up.
You can also use your holiday pay to cover periods of sickness.
Find out more on the Citizens Advice websites for England.
Your employer may invite you to a meeting if you have more time off than their absence and sickness policy allows. They could give you a warning about your absence.
Please don’t panic if you’re called to your first meeting about sickness. Your employer may want to understand your PKD and discuss adjustments, which is a good thing.
The action they take regarding your absence will depend, in part, on why you were absent and their absence and sickness policy.
To prepare for meetings about absence:
If your employer is classing your absence related to PKD as sick leave, question this. If you’re classed as disabled, a reasonable adjustment could be to increase the amount of time you can have off for PKD care.
Remember that absences not related to PKD (for example, for a head cold) will count as sick leave.
If your employer issues you a warning for time off related to your PKD, it’s a good idea to seek trade union support (if you’re a trade union member). Alternatively, you could contact ACAS for advice.
It’s illegal for companies to discriminate against or mistreat an employee who is disabled. However, there may come a point when your employer feels you’re not able to do your job.
They could take steps to dismiss you if both:
Your employer should show that your dismissal is fair. For example, they could:
If you’re invited to a disciplinary hearing, you’re allowed to take someone with you if you’d like. This person can be a colleague or a trade union representative.
This is a complex area of law. If you’re in this situation, please seek expert advice, for example, from your trade union or ACAS.
If you’re looking for a new job, your potential future employer can only ask certain things about health and disability. This keeps the selection process fair.
Recruiters can ask:
They might also ask about disability to track the diversity of their job applicants.
Other than these situations, recruiters can’t usually ask questions about your health before offering you a job.
If you feel that you’re being unfairly treated by your employer due to your PKD, read their grievance procedure. It should explain how to raise concerns. If your employer doesn’t have a grievance procedure, put your concerns in a letter. Write that you’re raising a grievance and give your reasons. Your employer should arrange a meeting with you to discuss your concerns.
If you think you’ve been unfairly treated by a recruiting employer or your current employer, you can lodge a claim with an employment tribunal. You usually need to do this within 3 months of the problem happening.
Before making a claim, you need to tell ACAS. They’ll offer you ‘early conciliation’. This means they’ll talk to you and your employer and try to help you reach an agreement.
If this fails, your claim will go to an employment tribunal. This is similar to a court and is held by a judge. Employment experts without legal powers are often involved too.
The tribunal will hear evidence from you and your employer. They’ll decide whether you’re owed compensation (money).
Please get suitable advice, for example from your trade union or ACAS. They can help you take the right steps.
If you need extra help because of an illness, disability or mental health condition, you might be able to get disability benefits.
Find out more on the Citizens Advice website for England, Scotland and Wales.
England, Scotland and Wales
Northern Ireland
The photos on this webpage are freely available on Pexels.com. The medical history of the persons shown is unknown.
All of our publications are based on references but these are removed for ease of reading on our webpages. A version of this webpage with references included is available upon request by emailing [email protected]
Originally written by Fiona Davies in 2020. Updated and adapted in 2025 by Hannah Bridges, PhD, Independent Medical Writer, HB Health Comms Limited. Expert review by Sarah Borrows, Clinical Nurse Specialist Renal Genetics, Queen Elizabeth Hospital, Birmingham.
With thanks to all those affected by PKD who contributed to this publication.
Ref No: ADPKD.AE.V2.0
Last Updated: © September 2025 (v2.0).
Due for medical review: September 2028.
Disclaimer: This information is primarily for people in the UK. We have made every effort to ensure that the information we provide is correct and up to date. However, it is not a substitute for professional medical advice or a medical examination. We do not promote or recommend any treatment. We do not accept liability for any errors or omissions. Medical information, the law and government regulations change rapidly, so always consult your GP, pharmacist or other medical professional if you have any concerns or before starting any new treatment.
If you don't have access to a printer and would like a printed version of this information sheet, or any other PKD Charity information, call the PKD Charity Helpline on 0300 111 1234 (weekdays, 9am–5pm) or email [email protected]
The PKD Charity Helpline offers confidential support and information to anyone affected by PKD, including family, friends, carers, newly diagnosed or those who have lived with the condition for many years.
These tips are for people with autosomal dominant polycystic kidney disease (ADPKD), their families and caregivers. They’re to help you get the most out of appointments with your doctor, kidney specialist and other healthcare professionals.
Health appointments can be stressful and worrying at times. You might sometimes come away confused or realize that you didn’t ask the questions you planned to.
Our check lists and example questions below can help you to feel confident and get the most out of appointments. This will help you to get the care, support and information you need to manage your health well.
❑ Are you happy with the appointment plans? If not, request changes.
❑ Write down your symptoms and any treatment side effects.
❑ Make a list of the questions you want to ask.
❑ Check whether you can take someone along if you’d like to.
❑ Plan the trip so you don’t end up rushing.
❑ For video and phone appointments, plan to be somewhere quiet, private and with a good signal.
❑ If you’re going to have a test or procedure, make sure you understand what will happen.
❑ Collect any information requested.
❑ Pack drinks and snacks.
❑ Explain that you have some notes you’ll be using.
❑ Be open and honest about your symptoms and concerns.
❑ Write down key details.
❑ If anything isn’t clear, ask for it to be repeated or explained differently.
❑ Ask about the benefits and side effects of treatments.
❑ Check when and how you’ll get test results.
❑ Who can you contact with questions?
❑ If you need a minute or two to think things through, say so.
❑ Check your notes.
❑ Repeat key points back to the healthcare professional to check you understand correctly.
❑ Write down any questions you have after your appointment.
❑ If your symptoms worsen or you have side effects, tell a healthcare professional.
❑ If you don’t receive test results or a referral when expected, call the surgery or hospital.
❑ If you’re unhappy about the care you’ve received, give feedback or make a complaint.
Here are some of the example questions people ask at kidney check-ups.
Kidney Care UK has a good explanation of blood and urine test results.
All of our publications are based on references but these are removed for ease of reading on our webpages. A version of this webpage with references included is available upon request by emailing [email protected]
Written by Hannah Bridges, PhD, medical writer, HB Health Comms Ltd. Expert review by Sarah Borrows, Clinical Nurse Specialist Renal Genetics, Queen Elizabeth Hospital, Birmingham.
With thanks to all those affected by PKD who contributed to this publication.
Ref No: ADPKD.AT.V2.0
© PKD Charity 2025
First published: June 2025
Due to be medically reviewed: June 2028
Disclaimer: This information is primarily for people in the UK. We have made every effort to ensure that the information we provide is correct and up to date. However, it is not a substitute for professional medical advice or a medical examination. We do not promote or recommend any treatment. We do not accept liability for any errors or omissions. Medical information, the law and government regulations change rapidly, so always consult your GP, pharmacist or other medical professional if you have any concerns or before starting any new treatment.
If you don't have access to a printer and would like a printed version of this information sheet, or any other PKD Charity information, call the PKD Charity Helpline on 0300 111 1234 (weekdays, 9am–5pm) or email [email protected].
The PKD Charity Helpline offers confidential support and information to anyone affected by PKD, including family, friends, carers, newly diagnosed or those who have lived with the condition for many years.
These tips are for parents and guardians of children with autosomal recessive polycystic kidney disease (ARPKD). They’re to help you and your child get the most out of appointments with their GP, kidney doctor and other healthcare professionals.
We have a separate guide for adults. See appointment tips for adults with polycystic kidney disease (PKD).
Doctor’s appointments can be stressful and worrying at times for both you and your child. You might sometimes come away confused or realize that you didn’t ask the questions you planned to.
Our tips below can help you to feel confident and get the most out of your appointments. This will help you to get your child the care, support and information they need to live well with ARPKD.
It’s good to help children play an active role in their health appointments, even when they’re young. This can help them feel in control of their health. It will also help them build the skills they’ll need to manage their ARPKD as they grow up.
How much your child can take part in, or lead, chats and decisions about their health will depend on their age and skills. You’ll need to judge what’s right for them. It might also help to chat to other parents and guardians of children with ARPKD in our ARPKD Facebook group.
By age 6, most children can answer questions about how they feel. Most teenagers can make choices about their care themselves, although they may want your support and advice.
You may be surprised by how much your child can manage on their own when given the chance. Equally, if your child doesn’t want to lead the chat, or begins to struggle, be ready to offer help. Encourage them over time to get more involved.
In the tips below, we give some ideas on how you can help your child feel confident and involved in appointments.
Prepare together
❑ Explain to your child what will happen.
❑ Check whether your child has any new symptoms.
❑ Check who your child would like to go to the appointment with (if there’s a choice).
❑ Together, prepare a list of questions for the doctor.
❑ Are you happy with the appointment details? If not, request changes.
❑ Plan the trip so you don’t end up rushing.
❑ For video and phone appointments, plan to be somewhere quiet, private and with a good signal.
❑ If your child is going to have a test or procedure, make sure you prepare correctly.
❑ Collect any information the doctor has requested.
❑ Explain that you have some notes you’ll be using together.
❑ Let your child answer and ask questions themselves if possible.
❑ Help your child to be open and honest about their symptoms and concerns.
❑ Write down key details.
❑ Check your child understands.
❑ Ask about the benefits and risks of any treatments the doctor recommends.
❑ Check when and how you’ll get your child’s test results.
❑ Who can you or your child contact with questions?
❑ If you need a moment to chat to your child, say so.
❑ Check your notes.
❑ Repeat key information back to the doctor to check you and your child understand correctly.
❑ Check how your child is feeling.
❑ Write down any new questions you and your child have.
❑ If your child’s symptoms worsen or they have side effects, tell the doctor.
❑ If you don’t receive test results or a referral when expected, call the surgery or hospital.
❑ If you or your child are unhappy about their care, give feedback or make a complaint.
Here are some of the common questions people ask at kidney check-ups. We have written these for your child to ask, but you may need to ask some of these questions on their behalf, depending on their age.
All of our publications are based on references but these are removed for ease of reading on our webpages. A version of this webpage with references included is available upon request by emailing [email protected]
Written by Hannah Bridges, PhD, independent medical writer, HB Health Comms Limited. Expert review by Charlotte Futcher, Hypertension Clinical Nurse Specialist, Guy’s and St Thomas’ NHS Foundation Trust.
With thanks to all those affected by PKD who contributed to this publication.
Ref No: ARPKD.AT.V2.0
© PKD Charity January 2026
Latest updated: January 2026
Due for medical review: January 2029
Disclaimer: This information is primarily for people in the UK. We have made every effort to ensure that the information we provide is correct and up to date. However, it is not a substitute for professional medical advice or a medical examination. We do not promote or recommend any treatment. We do not accept liability for any errors or omissions. Medical information, the law and government regulations change rapidly, so always consult your GP, pharmacist or other medical professional if you have any concerns or before starting any new treatment.
If you don’t have access to a printer and would like a printed version of this information sheet, or any other PKD Charity information, call the PKD Charity Helpline on 0300 111 1234 (weekdays, 9am–5pm) or email [email protected].
The PKD Charity Helpline offers confidential support and information to anyone affected by PKD, including family, friends, carers, newly diagnosed or those who have lived with the condition for many years.