Autosomal recessive polycystic kidney disease
Overview
Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited childhood condition where the development of the kidneys and liver is abnormal. Over time, these organs may fail.
Causes
ARPKD is caused by a genetic fault that disrupts normal development of the kidneys and liver. In particular, the growth and development of the small tubes that make up the kidneys is affected, causing bulges and cysts (fluid-filled sacs) to develop within them. Over time, the cysts cause the kidneys to become enlarged and scarred (fibrosis), resulting in the deterioration of overall kidney function. Similar problems also affect the small tubes (bile ducts) that allow a digestive fluid called bile to flow out of the liver. The bile ducts may develop abnormally and cysts may grow inside them. The liver can also become scarred over time. ARPKD is caused by a genetic alteration in the gene PKHD1, which in most cases is passed on to a child by their parents. If both parents carry a faulty version of this gene, there's a 1 in 4 chance of each child they have developing ARPKD. The way ARPKD is inherited is different from a more common type of kidney disease calledautosomal dominant polycystic kidney disease (ADPKD), which usually does not cause significantly reduced kidney function until adulthood. Sometimes ADPKD can happen when only one parent has passed on a faulty gene, but this is rare. Find out more about the causes of ARPKD