Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Polycystic kidney disease

*


* Not a rare disease
Other Names for this Disease
  • PKD
  • Polycystic kidneys
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


Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms.[1]

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:[1]

(1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause.[1]

(2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.[2]
Last updated: 12/8/2011

References

  1. Polycystic kidney disease. Genetics Home Reference. 2006; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 12/8/2011.
  2. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). 2010; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 12/8/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Polycystic kidney disease have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • Genetics Home Reference (GHR) contains information on 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 National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC), part of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference has two articles on this topic from the perspective of Nephrology and Radiology. You may need to register to view the information online, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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 Polycystic kidney disease. Click on the link to view a sample search on this topic.