Polycystic Kidney Disease

polycystic kidney disease

The kidneys clear waste materials from the body and maintain a normal balance of fluids and chemicals in the body. The two kidneys lie to the sides of the upper abdomen, behind the intestines, and either side of the spine. Each kidney is about the size of a large orange, but bean-shaped.

What is polycystic kidney disease?

A cyst is a fluid-filled sac. Polycystic means many cysts.Polycystic kidney disease is a condition where many cysts develop in the kidneys. The cysts are benign (non-cancerous) and develop from some of the kidney tubules.

Polycystic kidney disease is a genetic condition. This means that one or more of your genes is faulty, which results in you making many cysts in your kidneys. There are different types of polycystic kidney disease:

  • Autosomal dominant polycystic kidney disease (ADPKD). This is the most common type. This is a hereditary condition caused by a faulty gene which is inherited from one parent. If symptoms and problems develop, they usually start in adulthood.
  • Autosomal recessive polycystic kidney disease (ARPKD). This is a rare condition which affects about 1 in 20,000 people. Problems typically develop soon after birth. You need two faulty genes to develop this condition. You get one faulty gene from each parent (who will be well but will be 'carriers' of one faulty gene each).
  • Non-hereditary polycystic kidney disease. In about 1 in 10 people who develop polycystic kidney disease, the faulty gene is a new mutation in the affected person. So, there are no other family members affected.
How does autosomal dominant polycystic kidney disease progress?

The disease develops very slowly more and more cysts, sometimes up to several hundred, develop over the years. The size of most of the cysts ranges from the size of a pinhead to 2 cm in diameter. However, some can become much larger. The cysts press on the normal parts of the kidney and gradually replace much of the normal kidney tissue. In time, this affects the function of the kidney, as less and less normal kidney tissue is able to filter the blood. The affected kidneys get bigger.

What are the initial symptoms of autosomal dominant polycystic kidney disease?

It is quite common to have ADPKD for years without developing any symptoms or realising that you have the condition. Some of the first symptoms and signs that may develop include one or more of the following:

  • Blood in the urine - which may come and go.
  • Protein in the urine.
  • Pain over one or both kidneys.
  • Kidney stones.
  • Abdominal pain and/or a swollen abdomen.
  • High blood pressure.
  • Recurring kidney infections.
How is autosomal dominant polycystic kidney disease diagnosed?

Ultrasound scan of the kidneys. This is a safe and painless test. ADPKD in an adult can usually be confidently diagnosed with this test.

CT or MRI scans are more detailed scans and may be done if there is any doubt about the diagnosis.

Urine tests.

Blood tests.

What are the possible complications of autosomal dominant polycystic kidney disease?

Possible complications include the following:

  • Decline in kidney function (failing kidneys)
  • High blood pressure
  • Cysts in other parts of the body
  • Although the kidneys are the main site affected, cysts may also develop in other parts of the body. For example, cysts commonly develop in the liver.
  • Aneurysm of an artery in the brain
  • An aneurysm is a localised swelling of a blood vessel. Up to 1 in 10 people with ADPKD develop an aneurysm in a brain artery. In most cases this does not cause symptoms or problems. However, there is a risk that an aneurysm may rupture (burst) to cause a bleed next to the brain (subarachnoid haemorrhage).
  • Heart valve abnormalities
  • About 1 in 5 people with ADPKD develop mitral valve prolapse. This causes the mitral valve in the heart to become a bit leaky.
  • Persistent pain
  • Pregnancy complications
  • Women with ADPKD who become pregnant have an increased chance of developing a complication of pregnancy, called pre-eclampsia.
  • Diverticular disease
  • There may be a slight increase in the risk of developing diverticulae (pouches) in the colon. However, in most cases this does not cause any problems.
What is the treatment for autosomal dominant polycystic kidney disease?

Many people with ADPKD remain well and free of problems for years after the condition is diagnosed. Once a year you will normally be advised to have an ultrasound scan of the kidneys, a blood pressure check, and blood tests to monitor your kidney function.

It is best to avoid contact sports where you may get a bash to the abdomen or sides of the back. Do not take anti-inflammatory painkillers such as ibuprofen, indometacin, etc, unless under the direction of your doctor.

There is no treatment that can reverse or affect the growth of the cysts although this area is under research.

Treating high blood pressure

Managing chronic kidney disease

People with CKD due to any cause (including ADPKD) have an increased risk of developing cardiovascular diseases such as heart disease and stroke.

  • Good control of blood pressure.
  • Medication to lower the cholesterol level - needed in many cases.
  • Stop smoking if you smoke.
  • Eat a healthy diet which includes a low salt intake.
  • Keep your weight and waist in check.
  • Take regular physical activity.
  • Cut back if you drink a lot of alcohol.
Treating pain

If you develop persistent pain from the enlarged kidneys then you may need painkillers. Sometimes an operation to drain or remove some particularly large cysts may be done if they are thought to be causing pressure and pain.

Urine and kidney infections

It is best to promptly treat any urine or kidney infection that may develop. Sometimes a cyst becomes infected which may need long-term antibiotic treatment, or other treatments.

Should family members be screened (tested) for autosomal dominant polycystic kidney disease?

If you have ADPKD you may wish to tell your brothers and sisters that they have a chance of also having it. If you have any children, you may also want them to be tested to see if they have the disease before it causes symptoms.

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