Causes of autosomal dominant polycystic kidney disease 

Most cases of autosomal dominant polycystic kidney disease (ADPKD) are caused by a mutation in the genetic building blocks (DNA) of either the PKD1 or PKD2 genes.

In ADPKD, the faulty PKD1 and PKD2 genes causes some of the cells in the kidneys to reproduce abnormally, which causes cysts to form.

In most cases of ADPKD, the faulty gene is passed to a child by one of the parents. A child of a parent with ADPKD has a 50% chance of inheriting the faulty gene.

Non-inherited ADPKD

In around one in four cases of ADPKD, a person develops the condition without having a known family history of the condition.

This could be because the condition was never diagnosed in a relative, or a relative with the condition may have died before their symptoms were recognised.

In around 1 in 20 of ADPKD cases, the mutation develops for the first time in the affected person. It is not known what causes this to happen.

The affected person can then pass the faulty gene on to their children in the same way as someone who inherited it from one of their parents (see above).

Page last reviewed: 09/06/2014

Next review due: 09/06/2016