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Autosomal dominant polycystic kidney disease

Not a rare disease Not a rare disease
Other Names:
ADPKD; Polycystic kidney disease, adult type
Categories:
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. Symptoms vary in severity and age of onset, but usually develop between the ages of 30 and 40. ADPKD is a progressive disease and symptoms tend to get worse over time. The most common symptoms are kidney cysts, pain in the back and the sides and headaches. Other symptoms include liver and pancreatic cysts, urinary tract infections, abnormal heart valves, high blood pressure, kidney stones, and brain aneurysms. ADPKD is most often caused by changes in the PKD1 and PKD2 genes, and less often by changes in the GANAB and DNAJB11 genes.[1] It is inherited in a dominant pattern. Treatment for ADPKD involves managing the symptoms and slowing disease progression. The most serious complication of ADPKD is kidney disease and kidney failure. ADPKD is the most common inherited disorder of the kidneys.[1][2]
Last updated: 2/20/2020
The symptoms and severity of autosomal dominant polycystic kidney disease (ADPKD) vary from person to person. The most common symptoms are formation of kidney cysts, pain in the back and the sides and headaches. These symptoms may get worse over time. Eventually the formation of multiple kidney cysts leads to kidney damage and kidney failure.[3][4]

People with ADPKD may also experience the following complications:[3]
Some people with ADPKD have few or no symptoms and may be diagnosed by accident or chance.[1][4] 
Last updated: 2/20/2020

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
Pituitary growth hormone cell adenoma 0011760
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Last updated: 7/1/2020
Autosomal dominant polycystic kidney disease (ADPKD) is caused by genetic changes in the PKD1, PKD2, GANAB and DNAJB11 genes. Genetic changes in PKD1 and PKD2 account for most cases of this condition.[3][4]   
Last updated: 2/21/2020
Autosomal dominant polycystic kidney disease (ADPKD) is inherited as an autosomal dominant trait in families. While many people with ADPKD have a family member with the same condition, ADPKD can also occur in an individual without a family history of ADPKD. This happens as the result of a new genetic change in one of the genes that causes ADPKD.[3]

 

 

Last updated: 2/21/2020
Autosomal dominant polycystic kidney disease (ADPKD) is diagnosed based on the symptoms, clinical examination, family history and imaging studies of the kidneys. The most common form of diagnostic kidney imaging is ultrasound, but more precise studies, such as computerized tomography (CT) scans or magnetic resonance imaging (MRI) are also widely used.[4][5]

Genetic testing may also be used to help confirm the diagnosis.  It is typically performed first in people who have a diagnosis or symptoms of ADPKD. If a genetic change is found, unaffected family members can be tested to determine if they will eventually develop the condition. 
Last updated: 2/21/2020

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment for autosomal dominant polycystic kidney disease (ADPKD) is aimed at treating both kidney and non-kidney symptoms. When kidney function starts to decline, treatment is aimed at slowing down the progression to kidney failure. This involves controlling high blood pressure, and making changes in the diet. When individuals with ADPKD develop renal failure, they may need to have dialysis or a kidney transplant.

Specialists involved in the care of someone with ADPKD may include:[1][5]
  • Radiologist
  • Nephrologist - a doctor who specializes in the care of kidneys
  • Dietician/nutritionist
  • Genetics specialist
Last updated: 2/21/2020

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

The symptoms and severity of autosomal dominant polycystic kidney disease (ADPKD) vary from person to person, therefore it is difficult to predict the long-term outlook. In general, ADPKD is a slowly progressive condition, which means the symptoms tend to get worse over time. About half of people with ADPKD will develop kidney failure in adulthood, requiring kidney dialysis and/or kidney transplant.[3][4]
Last updated: 2/21/2020
The exact number of people with autosomal dominant polycystic dominant kidney disease (ADPKD) is unknown.  The estimated number of people with ADPKD may range anywhere from 1/500 – 1/2500 people. It is the most common inherited form of kidney disease.[1][6] One recent study found that ADPKD is less common than it was previously thought especially when only the cases of people with symptoms are counted.[7]
Last updated: 2/21/2020

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 Autosomal dominant 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.

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

Organizations Providing General Support

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 Autosomal dominant 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 Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • 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.
  • 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) lists the subtypes and associated genes for Autosomal dominant polycystic kidney disease in a table called Phenotypic Series. Each entry in OMIM includes 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant polycystic kidney disease. Click on the link to view a sample search on this topic.

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

  • I am curious if my fiance who has inherited polycystic disease from his mother will follow her patterns and symptoms that she has faced with this disease. In autosomal dominant polycystic kidney disease (ADPKD), do the symptoms and severity of symptoms tend to be the same among affected family members (e.g., would a mother and her son with ADPKD be similarly affected)? See answer


  1. Chebib FT, Torres VE. Recent advances in the Management of Autosomal Dominant Polycystic Kidney Disease. Clin J Am Soc Nephrol. Nov 2, 2018; 13(11):1765-1776. https://pubmed.ncbi.nlm.nih.gov/3004989.
  2. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse. August 2015; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 11/7/2016.
  3. Harris PC, Torres VE. Polycystic Kidney Disease, Autosomal Dominant. Gene Reviews. July 2018; http://www.ncbi.nlm.nih.gov/books/NBK1246/.
  4. Cornec-Le-Gall, E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. Mar 2019; 393(10174):919-935. https://pubmed.ncbi.nlm.nih.gov/30819518.
  5. Chapman AB, Devuyst O, Eckardt KU, Gansevoort RT, et al.. Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Jul 2015. Kidney Int; 88(1):17-27. https://pubmed.ncbi.nlm.nih.gov/25786098.
  6. Harris T, Sandford R, EAF Members, Roundtable participants.. European ADPKD Multidisciplinary Position Statement on Autosomal Dominant Polycystic Kidney Disease Care: European ADPKD Forum and Multispecialist Roundtable Participants.. Nephrol Dial Transplant. Apr 1, 2018; 33(4):563-573. https://pubmed.ncbi.nlm.nih.gov/29309655.
  7. Willey C, Kamat S, Stellhorn R, Blais J. Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013-2015. Kidney Dise (Basel). Mar 2019; 5(2):107-117. https://pubmed.ncbi.nlm.nih.gov/31019924.
  8. Polycystic kidney disease. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 11/7/2016.