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

Renal volume and cardiovascular risk assessment in normotensive autosomal dominant polycystic kidney disease patients.
 

Author(s): Laia Sans, Julio Pascual, Aleksandar Radosevic, Claudia Quintian, Mireia Ble, Lluís Molina, Sergi Mojal, José A Ballarin, Roser Torra, Patricia Fernández-Llama

Journal: Medicine (Baltimore). 2016 Dec;95(49):e5595.

 

Cardiovascular disease, closely related to an early appearance of hypertension, is the most common mortality cause among autosomal dominant polycystic kidney disease patients (ADPKD). The development of hypertension is related to an increase in renal volume. Whether the increasing ...

Last Updated: 8 Dec 2016

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Tolvaptan and Kidney Pain in Patients With Autosomal Dominant Polycystic Kidney Disease: Secondary Analysis From a Randomized Controlled Trial.
 

Author(s): Niek F Casteleijn, Jaime D Blais, Arlene B Chapman, Frank S Czerwiec, Olivier Devuyst, Eiji Higashihara, Anna M Leliveld, John Ouyang, Ronald D Perrone, Vicente E Torres, Ron T Gansevoort,

Journal: Am. J. Kidney Dis.. 2017 Feb;69(2):210-219.

 

Kidney pain is a common complication in patients with autosomal dominant polycystic kidney disease (ADPKD), and data from the TEMPO 3:4 trial suggested that tolvaptan, a vasopressin V2 receptor antagonist, may have a positive effect on kidney pain in this patient group. Because pain ...

Last Updated: 18 Nov 2016

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Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
 

Author(s): Moritoshi Kinoshita, Eiji Higashihara, Haruna Kawano, Ryo Higashiyama, Daisuke Koga, Takafumi Fukui, Nobuhisa Gondo, Takehiko Oka, Kozo Kawahara, Krisztina Rigo, Tim Hague, Kiyonori Katsuragi, Kimiyoshi Sudo, Masahiko Takeshi, Shigeo Horie, Kikuo Nutahara

Journal:

 

Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated ...

Last Updated: 11 Nov 2016

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

Evidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney Disease.
 

Author(s): Lu Jiang, Pingping Fang, James L Weemhoff, Udayan Apte, Michele T Pritchard

Journal: Biomed Res Int. 2016 ;2016():4918798.

 

Autosomal recessive polycystic kidney disease (ARPKD) is a severe monogenic disorder that occurs due to mutations in the PKHD1 gene. Congenital hepatic fibrosis (CHF) associated with ARPKD is characterized by the presence of hepatic cysts derived from dilated bile ducts and a robust, ...

Last Updated: 28 Nov 2016

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The importance of total kidney volume in evaluating progression of polycystic kidney disease.
 

Author(s): Jared J Grantham, Vicente E Torres

Journal: Nat Rev Nephrol. 2016 Nov;12(11):667-677.

 

The rate at which autosomal dominant polycystic kidney disease (ADPKD) progresses to end-stage renal disease varies widely and is determined by genetic and non-genetic factors. The ability to determine the prognosis of children and young adults with ADPKD is important for the effective ...

Last Updated: 3 Oct 2016

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[A Case of Autosomal Dominant Polycystic Kidney Disease (ADPKD) with Metastases from Bilateral Small Renal Cell Carcinoma].
 

Author(s): Kunihisa Nezu, Takanari Sakai, Akito Kuromoto, Hidenori Kanno, Masahiko Sato, Kenji Numahata, Senji Hoshi

Journal: Hinyokika Kiyo. 2016 Jun;62(6):313-6.

 

The patient was a 47 year-old female who had autosomal dominant polycystic kidney disease (ADPKD) with bilateral small renal cell carcinoma (RCC). We performed bilateral partial nephrectomy and radiofrequency ablation to the residual tumor. Pathological diagnosis was clear cell carcinoma,Fuhrman ...

Last Updated: 25 Jul 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Early-Stage Polycystic Kidney Disease Biomarkers Repository Study
 

Status: Recruiting

Condition Summary: Polycystic Kidney Disease

 

Last Updated: 17 Oct 2016

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Polycystic Kidney Disease Data Repository
 

Status: Recruiting

Condition Summary: Polycystic Kidney Disease

 

Last Updated: 9 Aug 2016

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Pilot Study of Niacinamide in Polycystic Kidney Disease (NIAC-PKD2)
 

Status: Recruiting

Condition Summary: Polycystic Kidney Disease

 

Last Updated: 30 Nov 2016

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