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.

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

Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
 

Author(s): Da Zhang, Lin Lu, Hong-Bo Yang, Mei Li, Hao Sun, Zheng-Pei Zeng, Xin-Ping Li, Wei-Bo Xia, Xiao-Ping Xing

Journal: Chin. Med. J.. 2012 Jul;125(14):2482-6.

 

Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disease, which is a disorder with multiple organ involvement, mainly the kidney and liver. It is caused by mutations in the PKHD1 gene. Here, we reported the clinical characteristics of a case with ARPKD and ...

Last Updated: 13 Aug 2012

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Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.
 

Author(s): Meral Gunay-Aygun, Baris I Turkbey, Joy Bryant, Kailash T Daryanani, Maya Tuchman Gerstein, Katie Piwnica-Worms, Peter Choyke, Theo Heller, William A Gahl

Journal: Mol. Genet. Metab.. 2011 Dec;104(4):677-81.

 

Autosomal recessive polycystic kidney disease (ARPKD), characterized by progressive cystic degeneration of the kidneys and congenital hepatic fibrosis (CHF), is the most common childhood onset ciliopathy, with an estimated frequency of 1 in 20,000 births. It is caused by mutations ...

Last Updated: 25 Nov 2011

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[Caroli syndrome with autosomal recessive polycystic kidney disease].
 

Author(s): Jae Sung Ko

Journal: Korean J Gastroenterol. 2011 Jan;57(1):51-3.

 

Last Updated: 24 Jan 2011

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

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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Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.
 

Author(s): Sandro Rossetti, Peter C Harris

Journal: J. Am. Soc. Nephrol.. 2007 May;18(5):1374-80.

 

The phenotypes that are associated with the common forms of polycystic kidney disease (PKD)--autosomal dominant (ADPKD) and autosomal recessive (ARPKD)--are highly variable in penetrance. This is in terms of severity of renal disease, which can range from neonatal death to adequate ...

Last Updated: 26 Apr 2007

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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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