Rare Primary Care News

Disease Profile

Autosomal dominant polycystic kidney disease

Prevalence
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.

#N/A

US Estimated

Europe Estimated

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

no.svg

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.

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

ADPKD; Polycystic kidney disease, adult type

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

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]

Symptoms

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]

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
Pituitary growth hormone cell adenoma
0011760

Cause

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]

Diagnosis

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.

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

    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

    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.

    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

      Organizations Providing General Support

        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.
        • MedlinePlus Genetics contains information on Autosomal dominant polycystic kidney disease. This website is maintained by the National Library of Medicine.
        • 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.

            References

            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; https://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; https://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; https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 11/7/2016.

            Rare Primary Care News