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

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.
 

Author(s): Jun Miyazaki, Mayuko Ito, Haruki Nishizawa, Takema Kato, Yukito Minami, Hidehito Inagaki, Tamae Ohye, Masafumi Miyata, Hiroko Boda, Yuka Kiriyama, Makoto Kuroda, Takao Sekiya, Hiroki Kurahashi, Takuma Fujii

Journal:

 

In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

Last Updated: 27 Oct 2015

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Macrophage migration inhibitory factor promotes cyst growth in polycystic kidney disease.
 

Author(s): Li Chen, Xia Zhou, Lucy X Fan, Ying Yao, Katherine I Swenson-Fields, Mihaela Gadjeva, Darren P Wallace, Dorien J M Peters, Alan Yu, Jared J Grantham, Xiaogang Li

Journal: J. Clin. Invest.. 2015 Jun;125(6):2399-412.

 

Autosomal dominant polycystic kidney disease (ADPKD) is characterized by renal cyst formation, inflammation, and fibrosis. Macrophages infiltrate cystic kidneys, but the role of these and other inflammatory factors in disease progression are poorly understood. Here, we identified ...

Last Updated: 2 Jun 2015

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Pulsed oral sirolimus in advanced autosomal-dominant polycystic kidney disease (Vienna RAP Study): study protocol for a randomized controlled trial.
 

Author(s): Markus Riegersperger, Harald Herkner, Gere Sunder-Plassmann

Journal:

 

Autosomal-dominant polycystic kidney disease (ADPKD) is a hereditary illness that causes renal tubular epithelial cells to form cysts that proliferate and destroy renal tissue. This usually leads to a decline in renal function, and often to terminal kidney failure, with need for renal ...

Last Updated: 7 May 2015

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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 132 free, full-text review articles on human participants. First 3 results:

Systems biology of polycystic kidney disease: a critical review.
 

Author(s): Luis Fernando Menezes, Gregory G Germino

Journal: Wiley Interdiscip Rev Syst Biol Med. ;7(1):39-52.

 

The proliferation and diminishing costs of 'omics' approaches have finally opened the doors for small and medium laboratories to enter the 'systems biology era'. This is a welcome evolution that requires a new framework to design, interpret, and validate studies. Here, we highlight ...

Last Updated: 23 Feb 2015

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Therapeutic advances in the treatment of polycystic kidney disease.
 

Author(s): Cristian Riella, Peter G Czarnecki, Theodore I Steinman

Journal: Nephron Clin Pract. 2014 ;128(3-4):297-302.

 

The spectrum of polycystic kidney disease (PKD) comprises a family of inherited syndromes defined by renal cyst formation and growth, progressive renal function loss and variable extrarenal manifestations. The most common form, autosomal-dominant PKD is caused by mutations in one ...

Last Updated: 9 Feb 2015

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Kidney: polycystic kidney disease.
 

Author(s): Binu M Paul, Gregory B Vanden Heuvel

Journal: Wiley Interdiscip Rev Dev Biol. ;3(6):465-87.

 

Polycystic kidney disease (PKD) is a life-threatening genetic disorder characterized by the presence of fluid-filled cysts primarily in the kidneys. PKD can be inherited as autosomal recessive (ARPKD) or autosomal dominant (ADPKD) traits. Mutations in either the PKD1 or PKD2 genes, ...

Last Updated: 16 Oct 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

Repository Study of Autosomal Dominant Polycystic Kidney Disease
 

Status: Recruiting

Condition Summary: Autosomal Dominant Polycystic Kidney Disease

 

Last Updated: 4 Aug 2015

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Lanreotide In Polycystic Kidney Disease Study
 

Status: Recruiting

Condition Summary: Autosomal Dominant Polycystic Kidney Disease (ADPKD

 

Last Updated: 11 Nov 2015

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New Quantitive MRI Parameters in Assessing Kidneys of Autosomal Dominant Polycystic Kidney Disease
 

Status: Recruiting

Condition Summary: Autosomal Dominant Polycystic Kidney Disease; Kidney Disease

 

Last Updated: 5 Nov 2015

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