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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Autosomal recessive polycystic kidney disease


Other Names for this Disease

  • ARPKD
  • Polycystic kidney disease, infantile type
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Overview

What is autosomal recessive polycystic kidney disease?

How is autosomal recessive polycystic kidney disease inherited?

What is autosomal recessive polycystic kidney disease?

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person.[1] The signs of ARPKD frequently begin before birth, so it is often called “infantile PKD” but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients.[2] The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.[1]
Last updated: 4/24/2011

How is autosomal recessive polycystic kidney disease inherited?

Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner, as the name implies. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier. Carriers do not typically show signs and symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. This means that with each pregnancy, there is a 75% (3 in 4) chance to have an unaffected child.
Last updated: 4/26/2011

References
  1. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 5/12/2008.
  2. Polycystic Kidney Disease. NKUDIC. November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#recessive. Accessed 4/24/2011.


Other Names for this Disease
  • ARPKD
  • Polycystic kidney disease, infantile type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.