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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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Inheritance


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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