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Diseases

Genetic and Rare Diseases Information Center (GARD)

Autosomal recessive polycystic kidney disease


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.

Overview

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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Autosomal recessive polycystic kidney disease. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Digestive Diseases Information Clearinghouse (NDDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), offers information on this condition. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive polycystic kidney disease. Click on the link to view a sample search on this topic.
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.