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

Beneficial effect of combined treatment with octreotide and pasireotide in PCK rats, an orthologous model of human autosomal recessive polycystic kidney disease.
 

Author(s): Masanori Kugita, Kazuhiro Nishii, Tamio Yamaguchi, Atsushi Suzuki, Yukio Yuzawa, Shigeo Horie, Eiji Higashihara, Shizuko Nagao

Journal:

 

Increased intracellular cyclic AMP (cAMP) in renal tubular epithelia accelerates the progression of polycystic kidney disease (PKD). Thus, decreasing cAMP levels by an adenylyl cyclase inhibitory G protein activator is considered to be an effective approach in ameliorating PKD. In ...

Last Updated: 25 May 2017

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An Empirical Biomarker-Based Calculator for Cystic Index in a Model of Autosomal Recessive Polycystic Kidney Disease-The Nieto-Narayan Formula.
 

Author(s): Jake A Nieto, Michael A Yamin, Itzhak D Goldberg, Prakash Narayan

Journal:

 

Autosomal recessive polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 ...

Last Updated: 3 Oct 2016

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Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease.
 

Author(s): Katherine M Dell, Matthew Matheson, Erum A Hartung, Bradley A Warady, Susan L Furth,

Journal: J. Pediatr.. 2016 Apr;171():196-201.e1.

 

To define glomerular filtration rate (GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort.

Last Updated: 28 Mar 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 "Autosomal Recessive Polycystic Kidney Disease" returned 11 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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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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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 28 Aug 2017

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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: 18 Oct 2017

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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: 15 Sep 2017

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