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 631 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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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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Risk of intracranial hemorrhage associated with autosomal dominant polycystic kidney disease in patients with end stage renal disease.
 

Author(s): David J Yoo, Lawrence Agodoa, Christina M Yuan, Kevin C Abbott, Robert Nee

Journal:

 

An analysis of intracranial hemorrhage (ICH) in a national sample of autosomal dominant polycystic kidney disease (ADPKD) patients receiving long-term dialysis has not been reported. It is often assumed that patients with ADPKD are not at increased risk of ICH after starting dialysis. ...

Last Updated: 3 Mar 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 113 free, full-text review articles on human participants. First 3 results:

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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The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD).
 

Author(s): Sandro Rossetti, Peter C Harris

Journal: Curr Hypertens Rev. 2013 Feb;9(1):37-43.

 

The most important extra-renal manifestation of autosomal dominant polycystic kidney disease (ADPKD) in terms of debilitating injury and premature death is the development of intracranial aneurysms (IAs) and other vascular complications, resulting in subarachnoid hemorrhage (SAH). ...

Last Updated: 26 Aug 2013

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Thyroid-like follicular carcinoma of the kidney in a patient with nephrolithiasis and polycystic kidney disease: a case report.
 

Author(s): Metka Volavšek, Margareta Strojan-Fležar, Gregor Mikuz

Journal:

 

Thyroid-like follicular carcinoma of the kidney (TLFC), a rare neoplasm with low malignant potential, is histologically similar to primary thyroid follicular carcinoma, but characteristically lacks thyroid immunohistochemical markers. We report a case of 34-year old patient with nephrolithiasis. ...

Last Updated: 15 Aug 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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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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