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Polycystic Kidney Disease

polycystic kidney disease


Polycystic kidney disease is a condition where many cysts (fluid filled vesicles) 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.

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.
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 .

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.

Who gets autosomal dominant polycystic kidney disease?

The faulty gene of ADPKD causes a problem in the membrane (wall) of cells in certain parts of the body, in particular certain kidney cells. The fault in the cells leads to the development of cysts. In fact, with ADPKD, two faulty genes have been identified that can cause the condition. Therefore, ADPKD is divided into two subtypes - ADPKD I (about 17 in 20 cases), ADPKD 2 (about 3 in 20 cases).

How does autosomal dominant polycystic kidney disease progress?

The disease develops very slowly and therefore symptoms and problems usually do not develop until adulthood. 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. 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
  • 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.
  • CT or MRI scans are more detailed scans and may be done if there is any doubt about the diagnosis.
  • Urine tests to check for blood and protein in the urine.
  • Blood tests to check on the function of the kidneys.

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

  • 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.

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. No particular treatment may be needed for a time

  • 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.
  • Good control of blood pressure (and blood glucose level if you have diabetes).
  • Medication to lower the cholesterol level.
  • Stop smoking if you smoke.
  • Eat a healthy diet which includes a low salt intake.
  • Keep your weight 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.

Treating other cysts

If other cysts develop in other parts of the body and cause symptoms and problems, then various other treatments may be needed. For example, if a liver cyst causes problems, sometimes it is possible to drain or remove it.

Urine and kidney infections

It is best to promptly treat any urine or kidney infection that may develop.

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.

An ultrasound scan can usually detect ADPKD before it causes any symptoms.

A specialized genetic blood test is sometimes used to screen for ADPKD in younger people before cysts are detectable by ultrasound scan


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