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Genetics Home Reference: your guide to understanding genetic conditions
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Polycystic kidney disease

Reviewed May 2014

What is polycystic kidney disease?

Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with 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.

Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. Additionally, people with polycystic kidney disease have an increased risk of an abnormal bulging (an aneurysm) in a large blood vessel called the aorta or in blood vessels at the base of the brain. Aneurysms can be life-threatening if they tear or rupture.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and the pattern in which it is passed through families. The autosomal dominant form (sometimes called ADPKD) has signs and symptoms that typically begin in adulthood, although cysts in the kidney are often present from birth or childhood. Autosomal dominant polycystic kidney disease can be further divided into type 1 and type 2, depending on the genetic cause. The autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) is much rarer and is often lethal early in life. The signs and symptoms of this condition are usually apparent at birth or in early infancy.

How common is polycystic kidney disease?

Polycystic kidney disease is a fairly common genetic disorder. It affects about 500,000 people in the United States. The autosomal dominant form of the disease is much more common than the autosomal recessive form. Autosomal dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people.

What genes are related to polycystic kidney disease?

Mutations in the PKD1, PKD2, and PKHD1 genes cause polycystic kidney disease.

Mutations in either the PKD1 or PKD2 gene can cause autosomal dominant polycystic kidney disease; PKD1 gene mutations cause ADPKD type 1, and PKD2 gene mutations cause ADPKD type 2. These genes provide instructions for making proteins whose functions are not fully understood. Researchers believe that they are involved in transmitting chemical signals from outside the cell to the cell's nucleus. The two proteins work together to promote normal kidney development, organization, and function. Mutations in the PKD1 or PKD2 gene lead to the formation of thousands of cysts, which disrupt the normal functions of the kidneys and other organs. People with mutations in the PKD2 gene, particularly women, typically have a less severe form of the disease than people with PKD1 mutations. The signs and symptoms, including a decline in kidney function, tend to appear later in adulthood in people with a PKD2 mutation.

Mutations in the PKHD1 gene cause autosomal recessive polycystic kidney disease. This gene provides instructions for making a protein whose exact function is unknown; however, the protein likely transmits chemical signals from outside the cell to the cell nucleus. Researchers have not determined how mutations in the PKHD1 gene lead to the formation of numerous cysts characteristic of polycystic kidney disease.

Although polycystic kidney disease is usually a genetic disorder, a small percentage of cases are not caused by gene mutations. These cases are called acquired polycystic kidney disease. This form of the disorder occurs most often in people with other types of kidney disease who have been treated for several years with hemodialysis (a procedure that filters waste products from the blood).

Related Gene(s)

Changes in these genes are associated with polycystic kidney disease.

  • PKD1
  • PKD2
  • PKHD1

How do people inherit polycystic kidney disease?

Most cases of polycystic kidney disease have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the PKD1 or PKD2 gene in each cell. In about 90 percent of these cases, an affected person inherits the mutation from one affected parent. The other 10 percent of cases result from new mutations in one of the genes and occur in people with no history of the disorder in their family.

Although one altered copy of a gene in each cell is sufficient to cause the disorder, an additional mutation in the second copy of the PKD1 or PKD2 gene may make cysts grow faster and increase the severity of the disease. The rate at which cysts enlarge and cause a loss of kidney function varies widely, and may be influenced by mutations in other genes that have not been identified.

Polycystic kidney disease also can be inherited in an autosomal recessive pattern. People with this form of the condition have two altered copies of the PKHD1 gene in each cell. The parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

Where can I find information about diagnosis or management of polycystic kidney disease?

These resources address the diagnosis or management of polycystic kidney disease and may include treatment providers.

  • Gene Review: Polycystic Kidney Disease, Autosomal Dominant (http://www.ncbi.nlm.nih.gov/books/NBK1246/)
  • Gene Review: Polycystic Kidney Disease, Autosomal Recessive (http://www.ncbi.nlm.nih.gov/books/NBK1326/)
  • Genetic Testing Registry: Polycystic kidney disease, adult type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0085413)
  • Genetic Testing Registry: Polycystic kidney disease, infantile type (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0085548)
  • Genetic Testing Registry: Polycystic kidney disease 2 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C2751306)
  • Genetic Testing Registry: Polycystic kidney disease 3, autosomal dominant (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1418603)
  • MedlinePlus Encyclopedia: Polycystic kidney disease (http://www.nlm.nih.gov/medlineplus/ency/article/000502.htm)

You might also find information on the diagnosis or management of polycystic kidney disease in Educational resources (http://www.ghr.nlm.nih.gov/condition/polycystic-kidney-disease/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/polycystic-kidney-disease/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about polycystic kidney disease?

You may find the following resources about polycystic kidney disease helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for polycystic kidney disease?

  • PKD
  • polycystic renal disease

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about polycystic kidney disease?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding polycystic kidney disease?

aneurysm ; aorta ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; cell nucleus ; cysts ; end-stage renal disease ; gene ; heart valve ; hematuria ; hemodialysis ; hypertension ; inheritance ; kidney ; kidney stones ; mutation ; nucleus ; pattern of inheritance ; polycystic kidney ; protein ; recessive ; renal ; renal disease ; rupture ; stage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Adeva M, El-Youssef M, Rossetti S, Kamath PS, Kubly V, Consugar MB, Milliner DM, King BF, Torres VE, Harris PC. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore). 2006 Jan;85(1):1-21. (http://www.ncbi.nlm.nih.gov/pubmed/16523049?dopt=Abstract)
  • Boucher C, Sandford R. Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2). Eur J Hum Genet. 2004 May;12(5):347-54. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14872199?dopt=Abstract)
  • Eccles MR, Stayner CA. Polycystic kidney disease - where gene dosage counts. F1000Prime Rep. 2014 Apr 1;6:24. eCollection 2014. Review. (http://www.ncbi.nlm.nih.gov/pubmed/24765529?dopt=Abstract)
  • Gene Review: Polycystic Kidney Disease, Autosomal Dominant (http://www.ncbi.nlm.nih.gov/books/NBK1246/)
  • Gene Review: Polycystic Kidney Disease, Autosomal Recessive (http://www.ncbi.nlm.nih.gov/books/NBK1326/)
  • Hateboer N, v Dijk MA, Bogdanova N, Coto E, Saggar-Malik AK, San Millan JL, Torra R, Breuning M, Ravine D. Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999 Jan 9;353(9147):103-7. (http://www.ncbi.nlm.nih.gov/pubmed/10023895?dopt=Abstract)
  • Horie S. ADPKD: molecular characterization and quest for treatment. Clin Exp Nephrol. 2005 Dec;9(4):282-91. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16362154?dopt=Abstract)
  • Igarashi P, Somlo S. Genetics and pathogenesis of polycystic kidney disease. J Am Soc Nephrol. 2002 Sep;13(9):2384-98. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12191984?dopt=Abstract)
  • Lina F, Satlinb LM. Polycystic kidney disease: the cilium as a common pathway in cystogenesis. Curr Opin Pediatr. 2004 Apr;16(2):171-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021197?dopt=Abstract)
  • Sweeney WE Jr, Avner ED. Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res. 2014 Jan;75(1-2):148-57. doi: 10.1038/pr.2013.191. Epub 2013 Oct 31. (http://www.ncbi.nlm.nih.gov/pubmed/24336431?dopt=Abstract)
  • Tahvanainen E, Tahvanainen P, Kääriäinen H, Höckerstedt K. Polycystic liver and kidney diseases. Ann Med. 2005;37(8):546-55. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16338757?dopt=Abstract)
  • Wilson PD. Polycystic kidney disease. N Engl J Med. 2004 Jan 8;350(2):151-64. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14711914?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2014
Published: July 7, 2014