Autosomal Dominant Polycystic Kidney Disease Adpkd

Overview

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition in which many fluid-filled sacs, called cysts, develop in the kidneys. Over time, these cysts can make the kidneys larger and stop them from working properly.

ADPKD is the most common inherited kidney disease. It affects about 1 in 1,000 to 1 in 2,500 people worldwide.

It affects people of all backgrounds and both sexes equally. Most people with ADPKD have a parent or sibling with the condition. It is rarely seen in children, but they can be born with it.

Symptoms

Common symptoms

• High blood pressure
• Back or side pain
• Blood in the urine
• Frequent kidney infections
• Feeling of fullness or swelling in the belly
• Kidney stones
• Needing to urinate often

Symptoms in children

• Many children with ADPKD have no symptoms at all.
• Some may have high blood pressure or urinary tract infections.
• A few children may have a noticeable belly or pain.

Symptoms in older adults

• Symptoms often become more noticeable as the cysts grow larger.
• Older adults may feel more tired, notice swelling in their legs, or have kidney function that gets worse over time.
• They may also develop complications like kidney failure.

Causes

Main causes

• A change (mutation) in a gene called PKD1 or PKD2.
• The condition is inherited, so a parent with ADPKD can pass the changed gene to their children.
• In a small number of people, the gene change happens without any family history.

Risk factors

• Having a parent, sibling, or child with ADPKD.
• Being aged 30 or older, because cysts tend to grow over time.
• Having high blood pressure or a family history of kidney failure.

When to see a doctor

See a doctor urgently if:

• See a doctor the same day if you have blood in your urine, a fever with back pain, or a sudden increase in pain.
• Tell your doctor right away if you have new or worsening high blood pressure.

Book a routine appointment if:

• Talk to your doctor if you have a family history of ADPKD and want to discuss tests or genetic counselling.
• Make an appointment if you have long-lasting back pain, urinary symptoms, or concerns about your kidneys.

Diagnosis

Doctors usually use imaging scans to look for cysts in your kidneys and measure their size. A family history of ADPKD is very helpful in making the diagnosis.

Tests that may be done

• Ultrasound – uses sound waves to create pictures of the kidneys and spot cysts.
• CT scan – takes detailed X-ray images from different angles.
• MRI – uses a strong magnet and radio waves to get very clear images of the kidneys.
• Blood tests – check how well your kidneys are filtering waste.
• Genetic test – looks for the specific gene change that causes ADPKD. This is not needed for everyone.

What to expect at your appointment

Your doctor will ask about your symptoms and family history, examine you, and order any needed tests. You may need more than one test to confirm the diagnosis and see how well your kidneys are working.

Treatment

There is no cure for ADPKD, but treatment can slow the growth of cysts, protect your kidneys, and manage symptoms. A kidney specialist (nephrologist) will usually guide your care.

Self-care at home

• Drink enough water throughout the day, as advised by your doctor.
• Limit salt to help control blood pressure.
• Eat a balanced diet with plenty of fruits, vegetables, and whole grains.
• Stay physically active with gentle exercise like walking or swimming.
• Do not smoke, and limit alcohol.
• Take pain relievers only as advised – some over-the-counter medicines can damage kidneys.

Medical treatments

Your doctor may prescribe medicines to lower blood pressure or reduce protein in the urine. In certain cases, a medicine may be used to slow the growth of cysts. These treatments are not right for everyone, so your doctor will decide based on your age, kidney function, and overall health. Regular blood tests will monitor how well the treatment is working.

When is surgery considered?

Surgery is rarely needed for ADPKD. If a cyst becomes very large and painful, a doctor may drain it with a needle. If the kidneys fail completely, options include dialysis or a kidney transplant. These are not surgeries to remove the cysts, but treatments for kidney failure.

Living with this condition

Living with ADPKD means keeping up with regular check-ups, taking your medicines as prescribed, and watching for new symptoms. It helps to build a good relationship with your healthcare team and to ask questions when you are unsure.

Lifestyle tips

• Keep your blood pressure in the target range your doctor sets.
• Drink fluids regularly, but ask your doctor how much is right for you.
• Stay active and maintain a healthy weight.
• Avoid smoking and limit alcohol.
• Learn healthy ways to manage stress, such as deep breathing, hobbies, or talking to friends.

Diet and exercise

A diet low in salt and moderate in protein may help protect your kidneys. Regular exercise, like walking or cycling, is good for your heart and blood pressure. Always talk to your doctor before making major diet changes or starting a new exercise program.

Mental health and emotional wellbeing

Living with a chronic condition can cause worry, sadness, or stress. It is normal to feel this way. Talk to your family, friends, or a mental health professional. If you are having thoughts of harming yourself, reach out for help immediately – your local crisis helpline is there for you.

Prevention

ADPKD is inherited, so there is no way to prevent it if you have the gene. However, you can slow the progression of the disease by keeping your blood pressure healthy, eating well, avoiding smoking, and staying active. If you have a family history and are planning a family, genetic counselling may help you understand your options.

Vaccines

Staying up to date with recommended vaccines, such as flu and COVID-19 vaccines, is a good idea because people with kidney problems are at higher risk of serious infections. Ask your doctor or pharmacist about which vaccines are recommended for you.

Screening programmes

If you have a family history of ADPKD, your doctor may suggest screening with an ultrasound or a genetic test, even if you have no symptoms. Early detection allows you to start healthy habits and treatment as soon as possible.

Complications

If left untreated

• Persistent high blood pressure that can damage your kidneys.
• Recurrent kidney infections and painful kidney stones.
• Gradual loss of kidney function, leading to kidney failure.
• Cysts in the liver, which may cause pain or fullness.
• An increased risk of stroke, especially if blood pressure is not controlled.

Long-term outlook

Although there is no cure yet, many people with ADPKD live active and satisfying lives for many years. Treatment advances are helping people manage the condition better. If kidney failure develops, dialysis or a kidney transplant can keep you alive. With the right care, your future can still be hopeful.

Find support

External links open third-party websites. Ruqelo Health is not responsible for external content. Listing an organisation does not imply endorsement.