Autosomal Dominant Polycystic
Kidney Disease (ADPKD)

ADPKD is the fourth most common cause of kidney failure worldwide. Affecting up to one in 1,000 people globally, ADPKD can have a huge impact on people’s quality and length of life.

What causes ADPKD?

ADPKD is a genetic disease which is passed down from parent to child. If one parent has ADPKD then there is a one in two (50%) chance that their child will inherit the disease. However, about one in ten (10%) cases occur without a family history of the disease, this is because a random mutation can occur in the gene that causes ADPKD. ADPKD affects men and women equally.

1.1-diagram

The faulty gene causes fluid-filled cysts to develop on the kidneys, which can consequently swell to four times their regular size and weigh up to 100 times more than usual. The cysts replace the normal tissue in the kidneys and can stop them from functioning properly, which can lead to kidney failure. Cysts can also grow on the liver and pancreas.

ADPKD can have a massive impact on people’s lives, socially, financially and emotionally. In fact, people with ADPKD are more likely to experience anxiety and depression compared to the general public. One study showed that up to two thirds (61%) of people with ADPKD suffered with depression, which is up to 20 times higher than the general population.

The Symptoms

Although the cysts begin to form from birth, symptoms can take a long time to develop, normally appearing between the ages of 30 and 50.3 The severity and type of symptoms in ADPKD can vary from case to case, even among close family members.

Blood in urine (haematuria)

Chronic Kidney Disease (CKD)

High blood pressure

Abdominal / lower back pain

Kidney Stones

Recurrent urinary tract infection (UTIs)

Treatment for ADPKD

There is, unfortunately, no known cure for PKD. Research is currently being undertaken to try and find a cure, however funding for this is limited due to lack of awareness of the disease. The main treatment available for people with ADPKD is managing the symptoms that are presented over time.

If you are interested in finding out more about the clinical trials (studies which are currently taking place) that are investigating potential medications for PKD, click here.

Close

References