Autosomal dominant polycystic kidney disease (ADPKD): Your expert guide

We invited highly respected consultant nephrologist Dr Daniel Jones to share his expert insight on autosomal dominant polycystic kidney disease in this informative guide for patients. The leading specialist offers detailed advice on receiving your diagnosis and managing your symptoms, and also discusses they key benefits of seeing a specialist to help manage and assess your condition.

Receiving your diagnosis

Being given a diagnosis of polycystic kidney disease as an adult can be very daunting. The condition is often diagnosed after imaging shows multiple cysts in the kidney. Usually, there will be other members of your family which may be known to have the condition.

When you are first diagnosed, there is a lot of information to take in and it is usual to have lots of questions and concerns. This article provides information to empower you to get the best care and covers common questions people ask.

At the time of your diagnosis the kidney function is usually still very good, and you will be well. It is important to understand that although the condition can progress to end stage kidney failure during your lifetime, the likelihood is that interventions (i.e., dialysis or kidney transplantation), are many years, if not decades away.

Next steps: What do you need to know?

Polycystic kidney disease is a genetic condition and there is a 50 per cent risk that your children will inherit it. Numerous cysts develop in the kidney which impairs the normal functioning of the kidneys. Liver cysts are also common, but it is rare for these to cause any significant problems.

Advice on symptom relief

Symptoms can occur due to the size of the cysts, such as abdominal bloating or reduced appetite. Episodic pain can also occur related to bleeding into cysts or fevers due to infection of the cysts. People with the condition can have blood in their urine. Symptoms of kidney impairment include, lethargy, a poor appetite, nausea or vomiting, itching, and a bitter or metallic taste in the mouth, but these are usually only experienced at low levels of kidney function.

Following this guidance can help you to manage your symptoms:

• Use paracetamol rather than non-steroidal anti-inflammatory drugs i.e., ibuprofen if pain relief is needed.
• Keep hydrated - this could reduce the rate of cyst formation and lessen the speed of your kidney decline. You can monitor your hydration by looking at your urine. If you are drinking enough the urine will be colourless or light yellow.
• Know your blood pressure and aim to keep it less than 130/80 - this will benefit your kidney health.
• Follow a healthy lifestyle (be physically active, avoid smoking) and diet (low in salt and saturated fats) to minimise your risk of cardiovascular disease.

Seeing a specialist

It’s helpful to see a specialist as you may benefit from a risk assessment, which will include an MRI to calculate your kidney volume. You can also find out your kidney function (estimated GFR) and follow your trend. In England, when the kidney function (estimated GFR) is less than 90 mL/min you may wish to use Tolvaptan to slow the rate of kidney decline. Early use could lead to an additional seven years of kidney function. Later use can still be beneficial, but the gain is less.

You could also consider a genetic test to confirm your diagnosis of autosomal dominant polycystic kidney disease. This is particularly useful if you are not aware of anyone else in the family with the condition. Some patients also choose to use this genetic information as part of family planning. In vitro fertilisation with pre-implantation diagnosis is available for those who wish to use this to break the inheritance risk. This technique is not right for everyone, but you should know it is available.

It is also important to find out if members of your family, in particular first-degree relatives, have had a stroke at a young age. Very rarely, the condition is associated with saccular aneurysms in the brain, and these can be treated if present to lower the risk of stroke. If this has happened in your family, please speak with your doctor about screening.

The Polycystic Kidney Disease Charity is an excellent resource for further information.

To schedule a consultation with Dr Jones, visit his Top Doctors profile today.