What is ARPKD?


Fast Facts about Autosomal Recessive Polycystic Kidney Disease

•    ARPKD is a rare disease that affects the kidney and liver

•    In the general public, 1 in 70 is a carrier.  

•    It is estimated that between 65 and 76% of children with ARPKD also have high blood pressure.  

•    About 1 in 3 babies with ARPKD die from breathing problems within the  first four weeks of life.  

•    80-90% of babies that survive the first four weeks of life are still alive at  the age of 5.  

•    There is very little scientific investigation into how many children survive  into adulthood.

What causes ARPKD?


When is ARPKD diagnosed?

ARPKD is diagnosed in the following ways
The first sign of ARPKD is enlarged kidneys, which may be seen on the 18 – 20 week routine ultrasound scan of the pregnancy. The kidneys will continue to enlarge markedly during pregnancy and there may be a decrease in the amount of fluid around the baby. If there is less fluid produced in the second half of pregnancy, the lungs may have difficulty forming and may also be compressed by the very large kidneys.
At birth the infant may have an enlarged abdomen and smaller chest. ARPKD affects the following organs as well as the kidneys. Liver – The liver may be slightly enlarged. Lungs – if the kidneys are very badly affected before birth, the baby’s lungs may not fully develop. This can result in breathing difficulties and the baby may require assistance with breathing. Feeding – when the baby’s kidneys are enlarged, they may only be able to take small amounts of feeds at any one time so may require assistance with tube feeding.
Children who are diagnosed later with ARPKD have less severe kidneys problems.  They may also develop high blood pressure later, which needs to be treated.

How is ARPKD treated?


What is the outlook for a child with ARPKD?


Genetic testing and antenatal counselling


Is there a cure for ARPKD?


How can i prolong my child’s kidney health?


Helpful resources


PKD Charity – About ARPKD

PKD Foundation – What is ARPKD