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

Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
 

Author(s): Lena Obeidova, Tomas Seeman, Veronika Elisakova, Jana Reiterova, Alena Puchmajerova, Jitka Stekrova

Journal:

 

Autosomal recessive polycystic kidney disease (ARPKD) is an early-onset form of polycystic kidney disease that often leads to devastating outcomes for patients. ARPKD is caused by mutations in the PKHD1 gene, an extensive gene that encodes for the ciliary protein fibrocystin/polyductin. ...

Last Updated: 23 Dec 2015

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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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Pregnancy in autosomal recessive polycystic kidney disease.
 

Author(s): Nicole Banks, Joy Bryant, Roxanne Fischer, Marjan Huizing, William A Gahl, Meral Gunay-Aygun

Journal: Arch. Gynecol. Obstet.. 2015 Mar;291(3):705-8.

 

Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. As treatments improve, more women are reaching reproductive age, but little is known about ARPKD and pregnancy.

Last Updated: 6 Feb 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 "Autosomal Recessive Polycystic Kidney Disease" returned 10 free, full-text review articles on human participants. First 3 results:

Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects.
 

Author(s): Erum A Hartung, Lisa M Guay-Woodford

Journal: Pediatrics. 2014 Sep;134(3):e833-45.

 

Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of chronic kidney disease in children. The care of ARPKD patients has traditionally been the realm of pediatric nephrologists; however, the disease has multisystem effects, and a comprehensive care strategy ...

Last Updated: 3 Sep 2014

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Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference.
 

Author(s): Lisa M Guay-Woodford, John J Bissler, Michael C Braun, Detlef Bockenhauer, Melissa A Cadnapaphornchai, Katherine M Dell, Larissa Kerecuk, Max C Liebau, Maria H Alonso-Peclet, Benjamin Shneider, Sukru Emre, Theo Heller, Binita M Kamath, Karen F Murray, Kenneth Moise, Eric E Eichenwald, Jacquelyn Evans, Roberta L Keller, Louise Wilkins-Haug, Carsten Bergmann, Meral Gunay-Aygun, Stephen R Hooper, Kristina K Hardy, Erum A Hartung, Randi Streisand, Ronald Perrone, Marva Moxey-Mims

Journal: J. Pediatr.. 2014 Sep;165(3):611-7.

 

Last Updated: 25 Aug 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 17 Nov 2015

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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: 26 Jan 2016

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