Learn About Autosomal Recessive Polycystic Kidney Disease

What is the definition of 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. 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. The condition is caused by a genetic change in the PKHD1 gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Autosomal Recessive Polycystic Kidney Disease?
  • Autosomal recessive polycystic kidney disease
  • ARPKD
  • Polycystic kidney disease, infantile type
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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