Autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition. It causes small, fluid-filled sacs called cysts to develop in the kidneys. It can cause kidney failure. See your GP if you think you have the symptoms of ADPKD.
About autosomal dominant polycystic kidney disease (ADPKD)
About one in 800 people in the population are affected by ADPKD.
Although children affected by ADPKD are born with the condition, it rarely causes any problems that can be noticed until the cysts grow large enough to affect the kidneys' functions.
In most cases, this doesn't occur until a person is between 30 and 60 years of age.
Less commonly, children or older people may have symptoms as a result of ADPKD.
When ADPKD reaches this stage, it can cause a wide range of problems.
Pain in the abdomen (tummy), side or lower back is often the first symptom of ADPKD noticed. This can be severe, but is usually short-lived (lasting from a few minutes to several days).
Common causes of pain associated with ADPKD include:
- a cyst becoming larger
- bleeding into one or more cysts
- a kidney stone
- potentially serious upper urinary tract infections (UTIs)
- high blood pressure (hypertension)
- blood in the urine (haematuria) – which may not always be noticeable to the naked eye
Although it can often be a frightening symptom, blood in the urine isn't usually a cause for concern. Most cases will get better within a week without the need for treatment.
However, you should see your GP if you notice blood in your urine so that other possible causes, such as a growth in your bladder, can be investigated and excluded.
Kidney function will gradually get worst until so much is lost that kidney failure occurs.
Causes of ADPKD
ADPKD is caused by a genetic fault that disrupts the normal development of some of the cells in the kidneys and causes cysts to grow.
Faults in one of two different genes are known to cause ADPKD. The affected genes are:
- PKD1 – which accounts for 85 per cent of cases
- PKD2 – which accounts for 15 per cent of cases
Both types of ADPKD have similar symptoms, but they tend to be more severe in PKD1.
A child has a one in two chance of developing ADPKD if one of their parents has the faulty PKD1 or PKD2 gene.
Autosomal recessive polycystic kidney disease (ARPKD) is a rarer type of kidney disease which can only be inherited if both parents carry the faulty gene. In this type problems usually start much earlier, during childhood.
Non-inherited ADPKD
In around one in four cases, a person develops ADPKD without having a known family history of the condition.
This could be because the condition was never diagnosed in a relative, or a relative with the condition may have died before their symptoms were recognised.
In around one in 10 cases of ADPKD, the mutation develops for the first time in the affected person. It's not known what causes this to happen.
The affected person can pass the faulty gene on to their children in the same way as someone who's inherited it from a parent (see above).
Who's affected
ADPKD is the most common inherited condition to affect the kidneys, although it's still uncommon.
Treating ADPKD
There's no cure for ADPKD. But various treatments are available to manage problems caused by the condition.
Most problems, such as high blood pressure, pain and UTIs, can be treated with medication. Although you may need to have an operation to remove any large kidney stones that develop.
If the condition reaches a point where the kidneys aren't able to function properly, there are two main treatment options:
- dialysis – where a machine is used to replicate kidney functions
- kidney transplant – where a healthy kidney is removed from a living or recently deceased donor and implanted into someone with kidney failure
Outlook
The outlook for ADPKD is highly variable. Some people experience kidney failure soon after the condition is diagnosed. Others with the condition may live the rest of their life with their kidneys working well.
On average, around half of people with ADPKD require treatment for kidney failure by the time they're 60 years of age.
As well as kidney failure, ADPKD can also cause a number of other potentially serious problems, such as heart attacks and strokes caused by high blood pressure, or bleeding on the brain (subarachnoid haemorrhage) caused by a bulge in the wall of a blood vessel in the brain (brain aneurysm).
More useful links
The information on this page has been adapted from original content from the NHS website.
For further information see terms and conditions.
P