Fast facts about ADPKD
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most commonly inherited kidney disorder. In the UK, it accounts for around 1 in 10 people on dialysis and 1 in 8 with a kidney transplant.
ADPKD affects between 1 in 400 and 1 in 1000 people worldwide - over 12 million. It occurs equally in both men and women, across all ethnic groups.
ADPKD is caused by mutations in one or more genes causing them to function abnormally. Because ADPKD has a 'dominant' inheritance pattern, there is 1 in 2 chance that an affected parent will pass on ADPKD to each child born.
What are polycystic kidneys
ADPKD is characterised by numerous fluid-filled cysts in the kidneys and often the liver and pancreas. Over time, the cysts grow and multiply, replacing normal healthy tissue and causing the kidneys to lose their function. Kidneys can enlarge up to 4 times their regular size and weigh up to 100 times more.
The photo shows an ADPKD kidney compared with a normal kidney. (Photo courtesy of the PKD Foundation)
Problems in ADPKD
In early stages, there may be no symptoms and sometimes the cysts may not be noticed until adulthood or through family screening. However, some children present early with symptoms which can be confused with another form of PKD called AR (or autosomal recessive) PKD.
Common symptoms will vary by individual and may include back or abdominal pain, recurrent urinary infections or blood in the urine, kidney stones and kidney failure.
Over two thirds of adults and one third of children with ADPKD will develop high blood pressure or hypertension. Early and effective treatment of hypertension is essential to minimise the risks of strokes or heart problems.
Around 1 in 12 people with ADPKD will develop small brain aneurysms. These tend to occur in individuals with a family history of strokes.
Many people with ADPKD will also get PLD or polycystic liver disease. Usually, the liver is not affected by the cysts but they can grow uncomfortably large and cause pain.
However, not everyone with ADPKD will develop kidney failure and some people may never have any problems or be unaware they have the condition.
The future for those affected by ADPKD
ADPKD is at present incurable but treatments can help reduce the symptom burden and lower risk of complications. A new drug called tolvaptan is available for some adults and this can slow progression.
A number of other drugs are currently being trialled around the world aimed at slowing the decline of kidney function, giving future hope of an improved quality of life for those affected and their children.
The information on this page is under review by the PKD Charity using the accredited Information Standard process.
PKD Charity Helpline: 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.
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.
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