Autosomal dominant polycystic kidney disease (ADPKD) is a genetic condition that causes multiple cysts to develop on the kidneys. Cysts are small fluid-filled sacs.
The symptoms of ADPKD tend not to begin until adulthood, usually between the ages of 30 and 60.
Symptoms can include:
The symptoms of ADPKD can range from mild to severe.
Over time, the kidneys can lose more and more of their functions and in some cases people with ADPKD will lose all their kidney function (end-stage chronic kidney disease, or kidney failure).
Symptoms of kidney failure include:
Read more about the symptoms of autosomal dominant polycystic kidney disease.
The kidneys
The kidneys are two bean-shaped organs that are located on either side of the back of the body, just underneath the ribcage.
The main role of the kidneys is to filter out waste products from the blood and pass them out of the body as urine.
The kidneys also play an important role in:
- helping to maintain blood pressure at a healthy level
- keeping salt and water in balance
- making hormones needed for the production of blood and bone
Treatment
There is currently no cure for ADPKD so the goal of treatment is to:
- try to control blood pressure with medication
- relieve any symptoms of pain with painkillers
- treat any urinary tract infection with antibiotics
If kidney failure does occur, there are two possible treatments:
Read more about the treatment of autosomal dominant polycystic kidney disease.
Causes
ADPKD is caused by a genetic mutation that disrupts normal development of the kidneys. A genetic mutation occurs when normal instructions carried in certain genes become ‘scrambled’. This is turn means one or more processes of the body becomes disrupted.
Two genetic mutations are known to cause ADPKD:
- PKD1, which accounts for 85% of cases
- PKD2, which accounts for 15% of cases
Both of the sub-types of ADPKD have the same symptoms, although PKD1 tends to cause more severe symptoms.
A baby has a one in two chance of developing ADPKD if one of its parents are carriers of the PKD1 or PKD2 mutation.
Read more about the causes of autosomal dominant polycystic kidney disease.
Complications
ADPKD can cause a wide range of potential complications, but not everyone will necessarily develop all of them. They include:
- complications relating to high blood pressure, such as increased risk of heart attack and stroke
- cysts developing in other parts of the body such as the liver (polycystic liver disease)
- brain aneurysm – an aneurysm is a bulge in the wall of the blood vessel caused by a weakness in the blood vessel wall; if the bulge bursts, it can cause serious and possibly life-threatening bleeding in and around the brain (subarachnoid haemorrhage)
Read more about the complications of autosomal dominant polycystic kidney disease.
Who is affected?
ADPKD is uncommon – only one in every 1,000 people are born with the condition.
However, ADPKD is the most common genetic condition to affect the kidneys. It is estimated that around 50,000 people in the UK currently have ADPKD symptoms or will develop the condition at some point.
Outlook
The outlook in cases of ADPKD can be highly variable. Some people experience kidney failure soon after the condition is diagnosed.
Others may live the rest of their life with their kidneys working relatively well.
On average, around half of people with ADPKD require treatment for kidney failure by the time they are 60.
People with the type 1 ADPKD tend to develop kidney failure at an earlier age, at around 54.
People with the type 2 ADPKD develop kidney failure at a later age, at around 74.
