Polycystic kidney disease

Title

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

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

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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Decreased glomerular filtration rate		0012213
Elevated serum creatinine	Elevated creatinine High blood creatinine level Increased creatinine Increased serum creatinine [ more ]	0003259
Hepatic cysts	Liver cysts	0001407
Renal cyst	Kidney cyst	0000107
30%-79% of people have these symptoms
Abnormal urinary electrolyte concentration		0012591
Albuminuria		0012592
Hematuria	Blood in urine	0000790
Hypertension		0000822
Pain		0012531
Stage 5 chronic kidney disease		0003774
5%-29% of people have these symptoms
Aortic root aneurysm	Bulge in wall of root of large artery that carries blood away from heart	0002616
Arachnoid cyst	Fluid-filled sac located in membrane surrounding brain or spinal cord	0100702
Dilatation of the cerebral artery		0004944
Enlarged kidney	Large kidneys	0000105
Mitral valve prolapse		0001634
Nephrolithiasis	Kidney stones	0000787
Pancreatic cysts		0001737
Polycystic liver disease		0006557
Pyelonephritis		0012330
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Reduced sperm motility		0012207
1%-4% of people have these symptoms
Cerebral berry aneurysm		0007029
Mitral regurgitation		0001653
Pituitary growth hormone cell adenoma		0011760
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Colonic diverticula		0002253
Polycystic kidney dysplasia		0000113
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

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

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

PKD Foundation
1001 E. 101st Terrace, Suite 220
Kansas City, MO 64131
Telephone: +1-816-931-2600
TTY: 1-800-753-2873 (1.800.PKD.CURE)
Fax: +1-816-931-8655
E-mail: pkdcure@pkdcure.org
Website: https://pkdcure.org/

Organizations Providing General Support

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.
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
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/
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

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 (NIDDK) conducts and supports research on a broad spectrum of diseases affecting public health. Click on the link to view information on this topic.

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

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.

Have a question? Contact a GARD Information Specialist.

References References

Polycystic kidney disease. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 11/7/2016.
Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). 2010; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 12/8/2011.

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