Around three million people in the UK have kidney disease

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Polycystic kidney disease

What is it?

Polycystic kidney disease (PKD) is the name for a range of life-threatening inherited disorders that can cause kidney failure and damage to other organs.

Faulty genes cause fluid-filled cysts to develop and grow in the kidneys. This can happen at any point during childhood or adulthood and as they get bigger they cause the kidneys to enlarge – sometimes to three or four times their normal size.

In the UK there are about 70,000 adults and children with PKD. It affects both sexes and all races equally. It can sometimes be life-threatening.

What are the causes

The two major forms of PKD are:

  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Autosomal recessive polycystic kidney disease (ARPKD)

ADPKD is the most common form of PKD and the most common inherited condition to affect the kidneys. Cysts tend to develop in the kidneys and liver (and sometimes the pancreas) in late childhood or early adulthood.

It is caused by mutations in genes called PKD1 and PKD2. There is a one in two (50%) chance that an affected parent will pass on ADPKD to their child, but sometimes it can occur for the first time in a person with no family history of the condition. This new mutation can then be passed to the next generation.

Symptoms

When the cysts have multiplied and enlarged they can caused a range of symptoms including:

  • a swollen stomach
  • pain in the abdomen, side or back
  • blood in urine caused by blood vessel breakage in the cysts or possible kidney damage
  • high blood pressure
  • fever caused by a cyst infection
  • potentially serious urinary tract infections (UTIs) caused by a possible cyst infection
  • kidney stones
  • cystic liver disease is a frequent finding alongside ADPKD, and may increase problems with abdominal swelling and pain.
  • very rarely, ADPKD can cause abnormal blood vessels within the brain, which may cause bleeding into the brain (brain haemorrhage)

Diagnosis

Imaging tests (such as abdominal ultrasound, CT or MRI scans) may be used to confirm the presence of cysts in your kidneys or other organs. Blood and urine tests will also be used to gauge your kidney function and look for the presence of protein in your urine – a sign of kidney damage.

Diagnosis of your particular type of ADPKD usually requires analysis of your DNA. A kidney specialist will be able to give you advice about the chances of family members being affected, and whether screening should be offered to them.

Treatment

ADPKD is now commonly treated by a drug called Tolvaptan, which has been available across the UK since early 2016. Tolvaptan slows the progression of cyst development and helps protect kidney function. In most cases this is likely to significantly delay the need for dialysis or a kidney transplant for ADPKD patients.

Other treatments may also include:

  • medications such as ACE Inhibitors and ARBs to control blood pressure.
  • painkillers such as paracetamol for loin pains – but you may be advised to avoid non-steroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen, naproxen and diclofenac which can reduce the blood supply to the kidneys.
  • antibiotics (to treat any UTIs).
  • a range of methods to break up and remove kidney stones.

You may also be advised to:

  • exercise regularly but avoid contact sports (such as rugby or football) which could cause cysts to rupture and bleed.
  • eat a healthy balanced low-salt diet.

ARPKD

ARPKD is a rare condition caused by a genetic fault that disrupts normal development of the kidneys and liver. It may present in very young children or later in adulthood. Over time one or more of these organs may fail. Whilst there is no cure for ARPKD, there are various treatments that can help manage the disease, including dialysis and kidney transplantation. The PKD Charity website https://www.pkdcharity.org.uk/about-arpkd contains more information.

Help for you

If you have been diagnosed with PKD and have any questions or concerns about your illness, don’t hesitate to speak to your kidney specialist or your nurse specialist at your kidney unit.

Reviewed April 2019

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Research into polycystic kidney disease

PKD is an active area of research both for scientists, like Dr Jill Norman, who study the genetics and disease at the microscopic and molecular level and for doctors who conduct clinical trials. We have learnt much about blood pressure control and the use of drugs to reduce kidney and liver cysts. Future research studies are focussed on understanding how cysts form in the first place and stopping or slowing down the disease at a very early stage.

Join our research network

Join our Kidney Voices for Research network and get involved in the latest research into the causes and treatments of kidney disease.

Patient stories

John Roberts, PKD patient

“Two years later I would be the first person from Salford to take a holiday abroad with a portable dialysis machine for company”

John Roberts

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