Autosomal dominant polycystic kidney disease 

Introduction 

ADPKD causes multiple cysts to develop in the kidneys 

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

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys.

Although children are born with the condition, ADPKD does not usually cause any noticeable problems until the cysts grow large enough to affect the kidneys' functions.

In most cases, this doesn't occur until 30-60 years of age.

When ADPKD reaches this stage, it can cause a wide range of problems, including:

Eventually, kidney function gets worse and worse, until so much is lost that kidney failure develops.

Read more about the symptoms of ADPKD and diagnosing ADPKD.

What causes ADPKD?

ADPKD is caused by a genetic fault that disrupts normal development of the kidneys and causes cysts to grow.

Faults in one of two different genes are known to cause ADPKD. These are:

  • PKD1 – which accounts for 85% of cases
  • PKD2 – which accounts for 15% of cases

Both these types have the same symptoms, but they tend to be more severe in PKD1.

A baby has a 50% chance of developing ADPKD if one of its parents has the faulty PKD1 or PKD2 gene.

However, there is a different, rarer type of kidney disease called autosomal recessive polycystic kidney disease (ARPKD), which can only be inherited if both parents carry the faulty gene. In ARPKD, problems usually start in childhood.

Read more about the causes of ADPKD.

Who is affected

ADPKD is the most common inherited condition to affect the kidneys, although it is still relatively uncommon.

Only around one or two in every 1,000 people are born with ADPKD, which means there are currently around 60,000 people in the UK with the condition.

How ADPKD is treated

There is currently 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 are not 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

Read more about treating ADPKD.

Outlook

The outlook for ADPKD is highly variable. Some people experience kidney failure soon after the condition is diagnosed, whereas 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.

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 your brain (brain aneurysm).

Read more about the complications of ADPKD.

Page last reviewed: 09/06/2014

Next review due: 09/06/2016

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