Autosomal Recessive Polycystic Kidney Disease (ARPKD)

ARPKD is a severe and rare form of PKD that affects roughly one in every 20,000 children worldwide.

What causes ADPKD?

For a child to inherit ARPKD, both parents need to be ‘carriers’, which means that they each have one copy of the mutated gene that causes the disease. If this is the case then there is a one in four (25%) chance that the child will inherit two copies of the mutated gene and therefore develop ARPKD.

ARPKD inheritance diagram

ARPKD can cause fluid-filled cysts to grow on the kidneys and liver during foetal development, which can affect the growth of other organs such as the lungs. Sadly, around one in three (33%) babies with ARPKD do not survive past a few weeks because of breathing difficulties. However, of those who do survive past the early stages, nine out of ten (90%) live to be at least five years of age.

The Symptoms of ARPKD

ARPKD can cause a range of problems that vary from case to case, even differing between family members who also have the condition.

Breathing Difficulties

High Blood Pressure

Progressive loss
of kidney function,
known as Chronic Kidney Disease

Excessive urinating and thirst


Damage to
the liver
knownas Congenital Hepatic Fibrosis (CHF)

Normally, early signs of ARPKD can be detected with an ultrasound scan during the later stages of pregnancy, however in some cases people with ARPKD don’t develop symptoms until adulthood.

Treatment for ARPKD

There is no specific treatment for ARPKD and the most common approaches aim to improve the symptoms of the condition. For example, ventilators are given to babies that are struggling to breathe, while medication can be administered to help control high blood pressure.

Children with ARPKD may struggle to live a normal life, due to needing time consuming and painful treatments such as dialysis, transplants and coping with symptoms.

Despite the significant improvements in care over the past few decades, there is currently no cure for ARPKD and the person’s outlook can vary significantly with the severity of the disease. More research is therefore needed.

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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

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

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


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.

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.

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What is PKD

What is PKD

What is PKD?

While few of us have heard of it, Polycystic Kidney Disease (PKD) is a life threatening inherited disease that affects up to an estimated 12.5 million people worldwide.

PKD is characterised by the formation of large, fluid filled cysts that grow on the kidneys. These cysts can cause a person’s kidneys to painfully swell to dangerous sizes which may result in long term pain and kidney failure, ultimately requiring a kidney transplant which can be a risky and painful procedure. Sadly PKD can result in early death in babies and children.

Currently there is no cure for PKD and limited treatment available. Despite being one of the most common causes of kidney disease and having a profound impact on people’s lives, the lack of awareness surrounding PKD is still a key issue and funding for research is limited.






Autosomal dominant PKD

  • ADPKD is one of the most common life threatening genetic diseases
  • Affects up to 1 in 1,000 children and adults worldwide
  • Symptoms typically develop around the age of 30
  • Can result in kidney failure, leading to dialysis or kidney transplants

Autosomal recessive PKD

  • A rarer form of PKD that predominantly affects 1 in 20,000 children
  • ARPKD causes cysts to grow while the baby is still developing in the womb, preventing other organs from forming properly
  • Symptoms can appear during pregnancy and can be seen on an ultrasound scan
  • 1 in 3 babies with ARPKD do not survive their first few weeks of life

Learn more about ADPKD

Learn more about ARPKD

What is PKD?

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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.