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.

ADPKD inheritance 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)

Blood in the urine is a common initial symptom of ADPKD and can occur in up to one in two (50%) of people. Haematuria is usually caused by cysts bleeding into the kidneys but can sometimes be caused by kidney stones.

Passing this blood in the urine can last for a couple of weeks.

Chronic Kidney Disease
(CKD)

Worsening of PKD could eventually lead to loss of kidney function; this is known as Chronic Kidney Disease (CKD). Damage caused to the kidneys by PKD is progressive and irreversible.

The most advanced stage of CKD is kidney failure, in which your kidneys are no longer able to function well enough to keep you healthy. About half of the people with ADPKD suffer kidney failure by the time they are 54 years old.

High blood pressure

High blood pressure is a common symptom of ADPKD, occurring in nine in ten (90%) people with the disease. If someone’s blood pressure is high for a prolonged period of time it can lead to excess strain on the heart and blood vessels. In someone with ADPKD this can lead to further kidney damage.

Abdominal / lower back pain

Abdominal and/or lower back pain is common in people with ADPKD. The pain can come on suddenly and last for a short time (acute pain), or last for a long time (chronic pain).

Causes of acute pain include:

  • Infected kidney and liver cysts
  • Bursting cysts
  • Kidney stones
  • Urinary Tract Infection (UTI)

Causes of chronic pain include:

  • Formation and/or enlargement of cysts
  • Cysts pressing on other organs

Kidney
Stones

A person with ADPKD is at increased risk of kidney stones, which are crystals of substances found in urine. They can vary in size, from small particles that pass easily in the urine to larger irregular particles which can get caught in the kidney or ureter (the tubes from the kidney to the bladder). Kidney stones can cause severe pain in the back or groin and may result in nausea, vomiting and blood in the urine.

Recurrent
urinary tract infection (UTIs)

UTIs are common in people with ADPKD, particularly women. They occur when bacteria infect either the kidneys, ureters (the tubes from the kidney to the bladder), bladder or urethra (the tube from the bladder allowing urine to pass out of the body). If left untreated, a UTI can spread to the cysts on the kidney, leading to a worsening of kidney function.

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.

PKD International is a global network of patient organisations dedicated to advocating for patients and families affected by all forms of Polycystic Kidney Disease (PKD). PKD International is a non-profit, non-governmental association registered in Geneva, Switzerland.

www.pkdinternational.org