Polycystic Kidney Disease

Common Name(s)

Polycystic Kidney Disease

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.

The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance:

(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.

(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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polycystic Kidney Disease" for support, advocacy or research.

PKD Foundation

The PKD Foundation's mission is to promote programs of research, advocacy, education, support and awareness in order to discover treatments and a cure for polycystic kidney disease and improve the lives of all it affects.

Last Updated: 15 Nov 2012

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Polycystic Kidney Disease Charity

Our aims are: to provide information, advice and support to those affected by Polycystic Kidney Disease; to fund research into determining the causes of PKD, discovering treatments and a cure; and to raise awareness of PKD, providing information about PKD to patients, the public, the medical community and the media.

Last Updated: 24 Nov 2009

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The Cain Foundation for Branchio-oto-renal Syndrome (BOR)

The CAIN FOUNDATION, a voluntary based Charity. Our mission is to represent the interests of many people affected by Branchio-oto-renal Syndrome and to improve their quality of life by providing support and information related to this Syndrome. We seek to educate both Medical Practitioners and the public by promoting Branchio-oto-renal (BOR) Syndrome awareness. Vision to Educate. Mission to Care.

Last Updated: 12 Oct 2013

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Polycystic Kidney Disease" for support, advocacy or research.

PKD Foundation

The PKD Foundation's mission is to promote programs of research, advocacy, education, support and awareness in order to discover treatments and a cure for polycystic kidney disease and improve the lives of all it affects.

http://www.pkdcure.org

Last Updated: 15 Nov 2012

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Polycystic Kidney Disease Charity

Our aims are: to provide information, advice and support to those affected by Polycystic Kidney Disease; to fund research into determining the causes of PKD, discovering treatments and a cure; and to raise awareness of PKD, providing information about PKD to patients, the public, the medical community and the media.

http://www.pkdcharity.org.uk

Last Updated: 24 Nov 2009

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The Cain Foundation for Branchio-oto-renal Syndrome (BOR)

The CAIN FOUNDATION, a voluntary based Charity. Our mission is to represent the interests of many people affected by Branchio-oto-renal Syndrome and to improve their quality of life by providing support and information related to this Syndrome. We seek to educate both Medical Practitioners and the public by promoting Branchio-oto-renal (BOR) Syndrome awareness. Vision to Educate. Mission to Care.

http://www.thecainfoundation.com

Last Updated: 12 Oct 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Polycystic Kidney Disease" returned 641 free, full-text research articles on human participants. First 3 results:

Caroli's syndrome with autosomal recessive polycystic kidney disease.
 

Author(s): Prithi Shenoy, Syed Ahmed Zaki, Preeti Shanbag, Swapnil Bhongade

Journal: Saudi J Kidney Dis Transpl. 2014 Jul;25(4):840-3.

 

Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. ...

Last Updated: 27 Jun 2014

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Coexistence of autosomal dominant polycystic kidney disease and amyloidosis in a patient with nephrotic-range proteinuria.
 

Author(s): Ezgi Coskun Yenigun, Fatih Dede, Nihal Ozkayar, Didem Turgut, Serhan Vahit Piskinpasa, Ramazan Ozturk, Eyup Koc, Ali Riza Odabas

Journal: Iran J Kidney Dis. 2014 May;8(3):243-5.

 

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder characterized by the development and growth of cysts in the kidneys. Non-nephritic-range proteinuria is a common presentation in ADPKD patients; however, nephrotic syndrome is a rare coincidence. A 52-year-old ...

Last Updated: 2 Jun 2014

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Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.
 

Author(s): Atousa Hafizi, Saeid Reza Khatami, Hamid Galehdari, Gholamreza Shariati, Ali Hossein Saberi, Mohammad Hamid

Journal: Iran. Biomed. J.. 2014 Jul;18(3):143-50.

 

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of ...

Last Updated: 20 May 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Polycystic Kidney Disease" returned 115 free, full-text review articles on human participants. First 3 results:

Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease.
 

Author(s): Peter C Harris, Vicente E Torres

Journal: J. Clin. Invest.. 2014 Jun;124(6):2315-24.

 

Recent advances in defining the genetic mechanisms of disease causation and modification in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some extreme disease manifestations and other phenotypic variability. Studies of the ADPKD proteins, polycystin-1 ...

Last Updated: 4 Jun 2014

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Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy.
 

Author(s): William E Sweeney, Ellis D Avner

Journal: Pediatr. Res.. 2014 Jan;75(1-2):148-57.

 

Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are significant causes of morbidity and mortality in children and young adults. ADPKD, with an incidence of 1:400 to 1:1,000, affects more than 13 million individuals worldwide ...

Last Updated: 4 Feb 2014

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Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.
 

Author(s): Vicente E Torres, Peter C Harris

Journal: J. Am. Soc. Nephrol.. 2014 Jan;25(1):18-32.

 

Polycystic kidney disease (PKD) is a leading cause of ESRD worldwide. In PKD, excessive cell proliferation and fluid secretion, pathogenic interactions of mutated epithelial cells with an abnormal extracellular matrix and alternatively activated interstitial macrophages, and the disruption ...

Last Updated: 1 Jan 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease
 

Status: Recruiting

Condition Summary: Polycystic Kidney, Type 1 Autosomal Dominant Disease; Polycystic Kidney, Type 2 Autosomal Dominant Disease

 

Last Updated: 8 Apr 2014

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Repository Study of Autosomal Dominant Polycystic Kidney Disease
 

Status: Recruiting

Condition Summary: Autosomal Dominant Polycystic Kidney Disease

 

Last Updated: 22 May 2014

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Mesenchymal Stem Cells Transplantation in Patients With Chronic Renal Failure Due to Polycystic Kidney Disease
 

Status: Recruiting

Condition Summary: Chronic Renal Failure; Polycystic Kidney Disease

 

Last Updated: 17 Jun 2014

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