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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General Support Organizations

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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 613 free, full-text research articles on human participants. First 3 results:

Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease.
 

Author(s): Lena Obeidova, Veronika Elisakova, Jitka Stekrova, Jana Reiterova, Miroslav Merta, Vladimir Tesar, Frantisek Losan, Milada Kohoutova

Journal:

 

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary renal disorder caused by mutation in either one of two genes, PKD1 and PKD2. High structural and sequence complexity of PKD genes makes the mutational diagnostics of ADPKD challenging. The present study ...

Last Updated: 15 Apr 2014

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Cost-effectiveness of tolvaptan in autosomal dominant polycystic kidney disease.
 

Author(s): Kevin F Erickson, Glenn M Chertow, Jeremy D Goldhaber-Fiebert

Journal: Ann. Intern. Med.. 2014 Jan;160(2):143.

 

Last Updated: 21 Jan 2014

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Rationale and design of the DIPAK 1 study: a randomized controlled clinical trial assessing the efficacy of lanreotide to Halt disease progression in autosomal dominant polycystic kidney disease.
 

Author(s): Esther Meijer, Joost P H Drenth, Hedwig d'Agnolo, Niek F Casteleijn, Johan W de Fijter, Tom J Gevers, Peter Kappert, Dorien J M Peters, Mahdi Salih, Darius Soonawala, Edwin M Spithoven, Vicente E Torres, Folkert W Visser, Jack F M Wetzels, Robert Zietse, Ron T Gansevoort,

Journal: Am. J. Kidney Dis.. 2014 Mar;63(3):446-55.

 

There are limited therapeutic options to slow the progression of autosomal dominant polycystic kidney disease (ADPKD). Recent clinical studies indicate that somatostatin analogues are promising for treating polycystic liver disease and potentially also for the kidney phenotype. We ...

Last Updated: 24 Feb 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 106 free, full-text review articles on human participants. First 3 results:

New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.
 

Author(s): Grzegorz Telega, David Cronin, Ellis D Avner

Journal: Pediatr Transplant. 2013 Jun;17(4):328-35.

 

Improved neonatal medical care and renal replacement technology have improved the long-term survival of patients with ARPKD. Ten-yr survival of those surviving the first year of life is reported to be 82% and is continuing to improve further. However, despite increases in overall ...

Last Updated: 22 May 2013

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Polycystin-1C terminus cleavage and its relation with polycystin-2, two proteins involved in polycystic kidney disease.
 

Author(s): Claudia A Bertuccio, Michael J Caplan

Journal: Medicina (B Aires). 2013 ;73(2):155-62.

 

Autosomal dominant polycystic kidney disease (ADPKD), a most common genetic cause of chronic renal failure, is characterized by the progressive development and enlargement of cysts in kidneys and other organs. The cystogenic process is highly complex and involves a high proliferative ...

Last Updated: 10 Apr 2013

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Autosomal dominant polycystic kidney disease: new insights into treatment.
 

Author(s): Imed Helal

Journal: Saudi J Kidney Dis Transpl. 2013 Mar;24(2):230-4.

 

Autosomal dominant polycystic kidney disease (ADPKD) is the world's most common inherited kidney disease. An increasing number of animal and human studies have enhanced our understanding of the molecular and cellular pathology of ADPKD. New treatment options are being tested in clinical ...

Last Updated: 29 Mar 2013

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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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