RWTH Aachen University
Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Department of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany

Information about Autosomal Recessive Polycystic Kidney Disease (ARPKD)

What is ARPKD ?

ARPKD, also called "Infantile Polycystic Kidney Disease" is a rare hereditary disease, which relate to kidneys and liver. ARPKD affects one in 20.000 babies. Many of them die within the first months of life. For the children surviving the newborn period the chances of survival are good. About one-third will need dialysis or kidney transplantation at later stages of disease because of the loss of renal function.

How does someone get ARPKD ?

To be affected by ARPKD the baby must inherit two copies of disease gene, one copy by each parent. Since it is a recessive disease, it is very unusual that one of the parents or other relatives will have any signs of the disease or show any symptoms.

What gene is responsible for ARPKD ?

Research has shown that there is most likely ony one gene that causes ARPKD. It's called PKHD1 and it's located on chromosome 6.

What's about the kidney involvement in ARPKD ?

Typically children affected by ARPKD have enlarged kidneys with a lot of small cysts. The cystic changes are responsible for the progressive loss of renal function. The age at which kidey failure develops is very variable in different children. For the majority of them dialysis or kidney transplantation will become necessary during the course of disease.

What's about the liver involvement in ARPKD ?

The liver is always affected in ARPKD patients. Scarring in the liver, called congenital hepatic fibrosis (CHF), may lead to a blockage of blood flow through the liver. Usually the liver complications arise at later stages of disease.

Other complications of ARPKD

Most of the patients with ARPKD have high blood pressure. A medical treatment of this complication is very important. In some cases urinary tract infections occur. A small group of children do appear healthy until later childhood or adolescence. This particular group seems to be the ones who have primarly liver involvement. Complications are then caused by scarring in the liver.

Diagnosis of ARPKD

Almost everyone affected by ARPKD is diagnosed during infancy and childhood. In most cases the first changes take place during pregnancy. It is possible that the kidneys become so large that the baby cannot pass through the birth canal. Furthermore the baby's breathing effort can be impaired by the huge kidneys.

Where can get parents help and information?

As ARPKD is such an uncommon disease, it is important to involve a specialist with the medical care of your child. You should look after a Pediatric Nephrologist who has been trained in the care of children with kidney diseases. Consultations and prenatal diagnosis at Genetic Institutes are possible, if ARPKD is suspected in a family. In addition there are some self-help groups, where parents of affected children can exchange experiences and get information


International Websites


ARegPKD is a multinational European ARPKD registry with involvement of EU-neighbouring countries. Within this project two renowned clinical research consortia in pediatric nephrology, i.e. the German Pediatric Nephrology Association (GPN) and the European Study Consortium for Chronic Kidney Disorders Affecting Pediatric Patients (ESCAPE Network), join forces with leading geneticists and pathologists to advance the pathophysiological understanding, provide an observational evidence base for unified clinical treatment concepts for this disorder.

ARPKD Facts:

  • occurs in 1/6.000-1/20.000 new borns
  • autosomal recessive inherited genetic disease
  • 25% recurrence risk
  • usually diagnosed in ultrasound in 3rd trimester of pregnancy or after birth
  • typical signs: large hyperechogenic kidneys, oligohydramnios
  • severe life-threatening disease with kidney and liver involvement
  • unfortunately there is no cure
  • in affected families prenatal testing is possible if the underlying mutations have been identified in the family or in case of former doubtless pathological diagnosis
  • mutation detection rate up to 95% (at least one mutation is found)

© Copyright Department of Human Genetics, RWTH Aachen University
Use or publication of any data on this website requires the curator's permission.