Polycystic kidney disease, autosomal dominant (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) tends to be diagnosed in adults over30 years of age because symptoms don't usually startbefore then.
When making a diagnosis, your GP will ask about your symptoms and your family's medical history. If your kidneys are enlarged,your GP may be ableto feel them in your tummy (abdomen).
Your GP may also arrange for some of the tests described below to be carried out.
Your GP will measure your blood pressure to see whether it's higher than normal. They may also carry out other tests, such as:
An effective way of assessing how well your kidneys are working is to calculate your glomerular filtration rate (GFR) . GFR is a measure of how many millilitres (ml) of blood your kidneys are able to filter out waste products from in a minute. A healthy pair of kidneys should be able to filter more than 90ml of blood per minute.
Your GP will also arrange for you to have an ultrasound scan to look forcysts in your kidneys or other organs, such as your liver.
An ultrasound scan is a painless procedure where a small probe is passed across the skin over your kidneys. The probe emits high-frequency sound waves that are used to create an image of the inside of your body.
In some cases, you may need to have a computerised tomography (CT) scan or magnetic resonance imaging (MRI) scan . These will show your kidneys in more detail.
An MRI scan will be recommended if you have a family history of brain aneurysms . A brain aneurysm is a bulge in one of the blood vessels in the brain that's caused by a weakness in the blood vessel wall.
Screening peopleknown to be at risk of developing ADPKD due to a family history of the condition is a controversial issue in the medical community.
Some argue that screening achieves little because there's currentlyno treatment to stop ADPKD developing.
Telling a person that they haveADPKD and are likely todevelop kidney failure later in life could also cause them stress and anxiety.
Others argue that although you can't prevent ADPKD, screening can help identify cysts, and it's possible to treat the high blood pressure (hypertension) associated with ADPKD, which may reduce the person's risk ofdeveloping cardiovascular disease . If the diagnosis is known, complications won't come as a surprise and can be treated promptly and appropriately.
There's also now a treatment called tolvaptan that can slow the growth of cysts and may be beneficial in some cases.
If you're considering being screened for ADPKD, or having your children screened, you should discuss the advantages and disadvantages of screening with your GP, partner and family. You may also want to ask for a referral to see a kidney specialist.
Two methods can be used to confirm a diagnosis of ADPKD. They are:
It's important to be aware that neither test is entirely accurate and may not always detect ADPKD, even if you have the condition.
Imaging tests may miss very small cysts in younger people and will need to be repeated later in life. Genetic testing is more sensitive and accurate in diagnosing ADPKDbut may be negative in 10% of people with ADPKD.
Find out about autosomal dominant polycystic kidney disease (ADPKD), which is an inherited condition that causes small, fluid-filled sacs called cysts to develop in the kidneys.
Read about the symptoms of autosomal dominant polycystic kidney disease (ADPKD), including pain in your abdomen, side or lower back, blood in your urine and kidney stones.
Find out how autosomal dominant polycystic kidney disease (ADPKD) is diagnosed. Urine tests and specialised blood tests are used, plus an ultrasound scan, CT scan or MRI scan.
Find out how the problems caused by autosomal dominant polycystic kidney disease (ADPKD), such as high blood pressure, pain and kidney stones, can be treated.
Read about the potentially serious complications associated with autosomal dominant polycystic kidney disease (ADPKD) including liver cysts, cardiovascular disease and brain aneurysms.