Autosomal Recessive Polycystic Kidney Disease

Gene : PKHD1

What is autosomal recessive polycystic kidney disease?

Autosomal recessive polycystic kidney disease (ARPKD, previously called infantile polycystic kidney disease), is an inherited disorder characterized by kidney cysts, kidney failure, and high blood pressure. In contrast to autosomal dominant polycystic kidney disease, which tends to affect kidney function in older people (adults aged 30 or over), autosomal recessive polycystic kidney disease is a more common type of polycystic kidney disease in infants and children. The cysts impair normal function in the kidneys, including clearing waste of the body and maintaining normal blood pressure. In some children, liver function might be damaged as well. Because of impaired kidney functions, the lungs are often unable to develop completely because of an absence of fluid surrounding the baby in the womb before birth, which leads to decreased lung function after birth. In the most severe cases, death occurs before birth. Some infants will develop kidney disease in the first few years of life that will eventually lead to kidney failure. This requires dialysis or kidney transplantation to survive. In general, intelligence is usually not affected by ARPKD. There is no cure for ARPKD, although aggressive treatment and improved transplantation methods have significantly increased survival beyond infancy into adolescence. ARPKD is caused by pathogenic variants in PKHD1 gene.

How is autosomal recessive polycystic kidney disease inherited?

ARPKD is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

What does it mean to be a carrier?

There are generally no signs or symptoms associated with being a carrier for ARPKD. However, the risk to have a child affected with ARPKD is increased. Testing of reproductive partners is recommended for carriers of ARPKD.

How common is autosomal recessive polycystic kidney disease in general population?

ARPKD affects 1 in every 15,000 to 40,000 newborns.

Family References and Resources
Clinician References
What is Analyzed?
  • Full gene sequencing
Affected Systems



Carrier Rates
Detection Rate
Carrier Frequency
Ashkenazi Jewish 79% 1 in 107
General Population 79% 1 in 50

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