Autosomal Recessive Polycystic Kidney Disease

Common Name(s)

Autosomal Recessive Polycystic Kidney Disease, Polycystic kidney disease, infantile type

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called Òinfantile PKDÓ but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients.  The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

ARPKD/CHF Alliance

To educate, advocate, support and advance research specifically to Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis. Our purpose is to improve the lives of those affected.

Last Updated: 7 Jan 2013

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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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Advocacy and Support Organizations

 

Condition Specific Organizations

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

ARPKD/CHF Alliance

To educate, advocate, support and advance research specifically to Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis. Our purpose is to improve the lives of those affected.

http://www.arpkdchf.org

Last Updated: 7 Jan 2013

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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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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 "Autosomal Recessive Polycystic Kidney Disease" returned 46 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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Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease.
 

Author(s): Daisuke Yoshihara, Masanori Kugita, Mai Sasaki, Shigeo Horie, Koichi Nakanishi, Takaaki Abe, Harold M Aukema, Tamio Yamaguchi, Shizuko Nagao

Journal:

 

Human autosomal recessive polycystic kidney disease (ARPKD) produces kidneys which are massively enlarged due to multiple cysts, hypertension, and congenital hepatic fibrosis characterized by dilated bile ducts and portal hypertension. The PCK rat is an orthologous model of human ...

Last Updated: 10 Dec 2013

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Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
 

Author(s): Meral Gunay-Aygun, Esperanza Font-Montgomery, Linda Lukose, Maya Tuchman Gerstein, Katie Piwnica-Worms, Peter Choyke, Kailash T Daryanani, Baris Turkbey, Roxanne Fischer, Isa Bernardini, Murat Sincan, Xiongce Zhao, Netanya G Sandler, Annelys Roque, Daniel C Douek, Jennifer Graf, Marjan Huizing, Joy C Bryant, Parvathi Mohan, William A Gahl, Theo Heller

Journal: Gastroenterology. 2013 Jan;144(1):112-121.e2.

 

Autosomal recessive polycystic kidney disease (ARPKD), the most common ciliopathy of childhood, is characterized by congenital hepatic fibrosis and progressive cystic degeneration of kidneys. We aimed to describe congenital hepatic fibrosis in patients with ARPKD, confirmed by detection ...

Last Updated: 24 Dec 2012

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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 "Autosomal Recessive Polycystic Kidney Disease" returned 6 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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Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease.
 

Author(s): Jessica Wen

Journal: Clin Transl Sci. 2011 Dec;4(6):460-5.

 

Autosomal recessive polycystic kidney disease (ARPKD) is a developmental disorder that mainly affects the kidneys and the biliary tract. Affected patients often have massively enlarged cystic kidneys as well as congenital hepatic fibrosis (CHF) characterized by dilated bile ducts ...

Last Updated: 3 Jan 2012

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Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).
 

Author(s): Baris Turkbey, Iclal Ocak, Kailash Daryanani, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Maya Tuchman, Parvathi Mohan, Theo Heller, William A Gahl, Peter L Choyke, Meral Gunay-Aygun

Journal: Pediatr Radiol. 2009 Feb;39(2):100-11.

 

ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical ...

Last Updated: 23 Dec 2008

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 14 Mar 2014

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UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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