Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • ADPKD
  • Adult polycystic kidney disease
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Home > Genetic & Rare Diseases Information Center (GARD) > Autosomal dominant polycystic kidney disease

* This condition is not a rare disease. It is a condition about which the GARD Information Center has received a question.

Autosomal dominant polycystic kidney disease *
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Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. It is the most common inherited disorder of the kidneys. Symptoms usually develop between the ages of 30 and 40, but they can begin earlier, even in childhood. The most common symptoms are pain in the back and the sides. About 90 percent of all cases of polycystic kidney disease (PKD) are inherited as autosomal dominant. ADPKD is usually diagnosed by kidney imaging studies, such as ultrasound, CT, or MRI. Although there is no cure for ADPKD, treatment can ease symptoms and prolong life.[1]

References
  1. Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse. November 2007 Available at: http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed February 3, 2009.

Questions & Answers (Found 2 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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More Detailed Information (Found 9 resources)
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  • General

    • eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
    • Genetics Home Reference (GHR) contains a condition summary on Autosomal dominant polycystic kidney disease. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Autosomal dominant polycystic kidney disease. Click on the link to go to OMIM and review these resources.
    • 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.
  • Management Guidelines

    • 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. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
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Services (Found 1 resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
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Support Groups (Found 10 resources)
Groups providing a wide range of services, supportive resources, and information

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  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Autosomal dominant polycystic kidney disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.

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