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Polycystic kidney disease


Title


Not a rare disease Not a rare disease

Other Names:
PKD; Polycystic kidneys; ADPKD; PKD; Polycystic kidneys; ADPKD; Autosomal dominant polycystic kidney disease See More
Categories:
Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary Summary


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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

Symptoms Symptoms


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Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver.[1]

Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture.[1]

Last updated: 12/8/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 9 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Cerebral berry aneurysm 0007029
Mitral regurgitation 0001653
Mitral valve prolapse 0001634
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Colonic diverticula 0002253
Hepatic cysts
Liver cysts
0001407
Hypertension 0000822
Polycystic kidney dysplasia 0000113
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ]
0000083
Showing of 9 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Polycystic kidney disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • American Association of Kidney Patients
    3505 E. Frontage Rd., Suite 315
    Tampa, FL 33607-1796
    Toll-free: 800-749-2257
    Telephone: 813-636-8100
    Fax: 813-636-8122
    E-mail: info@aakp.org
    Website: http://www.aakp.org
  • American Kidney Fund, Inc.
    6110 Executive Boulevard
    Suite 1010
    Rockville, MD 20852
    Toll-free: 800-638-8299
    Telephone: 301-881-3052
    E-mail: helpline@kidneyfund.org
    Website: http://www.kidneyfund.org
  • National Kidney Foundation
    30 East 33rd Street
    New York, NY 10016
    Toll-free: 800-622-9010
    Telephone: 212-889-2210
    Fax: 212-689-9261
    E-mail: info@kidney.org
    Website: https://www.kidney.org/
  • PKD Foundation
    8330 Ward Parkway, Suite 510
    Kansas City, MO 64114-2027
    Telephone: 816-931-2600
    Fax: 816-931-8655
    E-mail: pkdcure@pkdcure.org
    Website: http://www.pkdcure.org
  • The Kidney Foundation of Canada
    700-15 Gervais Drive
    Toronto Ontario M3C 1Y8
    Canada
    Toll-free: 800-387-4474
    Telephone: 416-445-0373
    Fax: 416-445-7440
    E-mail: kidney@kidney.on.ca
    Website: http://www.kidney.on.ca
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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) 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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Polycystic kidney disease. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • My grandfather just recently found out he has polycystic kidney disease, and I am curious to know if I have it also. I am 20 years old and have experienced some symptoms. What is the best way to go about testing for this condition? What kinds of tests do they run? See answer

  • What complications, if any, could happen if a person with polycystic kidney disease becomes pregnant? What are the risks to the mother and the baby? See answer

  • Can Polycystic Kidney Diseases be diagnosed in pregnancy? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Polycystic kidney disease. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 11/7/2016.
  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.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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