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Disease Profile
Polycystic kidney disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
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Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
PKD; Polycystic kidneys; ADPKD;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases
Summary
Polycystic
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]
Symptoms
Frequent complications of polycystic
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.
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 |
0011760 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Colonic diverticula | 0002253 | |
Polycystic kidney dysplasia | 0000113 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
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: [email protected]
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: [email protected]
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://www.kidney.on.ca
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Polycystic kidney disease. This website is maintained by the National Library of Medicine.
- 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.
References
- Polycystic kidney disease. Genetics Home Reference. May 2014; https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 11/7/2016.
- Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). 2010; https://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 12/8/2011.
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