What is Polycystic Kidney Disease?

PKD affects approximately 6000 Australian families, and up to 6.5 million people globallyPolycystic kidney disease (PKD) is the most common inherited cystic kidney disease, which causes thousands of cysts (fluid filled sacs) to grow in the kidneys. The cysts grow gradually over time, enlarging the kidneys and making it harder for them to function properly. In Australia, PKD accounts for 6% of all people diagnosed with kidney failure. It affects people regardless of sex, age, race or ethnic origin.

There are two types of PKD

Autosomal Dominant PKD (ADPKD)

ADPKD is the ‘adult’ form of PKD and one of the most common genetic diseases. There is usually a family history of ADPKD with parents having a 50% chance of passing the disease on to each of their children. It does not skip a generation. Many of those affected may experience regular pain and high blood pressure while over half may develop kidney failure by the time they are 60 years old.

Autosomal Recessive PKD (ARPKD)

ARPKD is the ‘infantile’ form of PKD and a relatively rare form that is usually diagnosed at birth and affects approximately 1 in 20,000 individuals. It usually presents as enlarged kidneys with no family history of kidney disease. Boys and girls are affected equally however, both parents need to carry the gene defect for the child to inherit the disease.