Cystinosis

Common Name(s)

Cystinosis

Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cystinosis" for support, advocacy or research.

Cystinosis Foundation, Inc.

The Cystinosis Foundation, INC. The Cystinosis Foundation is a non-profit organization with more than 30 years of International experience in supporting and educating families and the medical community through the dissemination of educational literature, funding research, and annual conferences. We are dedicated to providing services for those suffering from cystinosis by: Parental Support - Parents are given information and referrals, receive Newsletters and are invited to Foundation sponsored Conferences. Education - The medical profession and the general public are educated about this rare disease through receptions at medical meetings, the media and distribution of literature. Research Support - The Foundation raises funds to promote research on causes and treatments of cystinosis. Affiliations - The Foundation is a member of the National Organization of Rare Disorders (NORD), EURODIS, and Genetic Alliance, organizations that further the cause of those coping with

Last Updated: 2 Nov 2012

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Cystinosis Research Foundation

The mission of the Cystinosis Research Foundation is two-fold and focused: to support bench and clinical cystinosis research for better treatments and find a cure for cystinosis.

Last Updated: 12 Dec 2012

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Cystinosis Research Network

CRN's vision is the discovery of improved treatments and ultimately a cure for cystinosis. CRN is a volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis.

Last Updated: 10 Oct 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cystinosis" for support, advocacy or research.

Cystinosis Foundation, Inc.

The Cystinosis Foundation, INC. The Cystinosis Foundation is a non-profit organization with more than 30 years of International experience in supporting and educating families and the medical community through the dissemination of educational literature, funding research, and annual conferences. We are dedicated to providing services for those suffering from cystinosis by: Parental Support - Parents are given information and referrals, receive Newsletters and are invited to Foundation sponsored Conferences. Education - The medical profession and the general public are educated about this rare disease through receptions at medical meetings, the media and distribution of literature. Research Support - The Foundation raises funds to promote research on causes and treatments of cystinosis. Affiliations - The Foundation is a member of the National Organization of Rare Disorders (NORD), EURODIS, and Genetic Alliance, organizations that further the cause of those coping with

http://www.cystinosisfoundation.org

Last Updated: 2 Nov 2012

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Cystinosis Research Foundation

The mission of the Cystinosis Research Foundation is two-fold and focused: to support bench and clinical cystinosis research for better treatments and find a cure for cystinosis.

http://www.cystinosisresearch.org/

Last Updated: 12 Dec 2012

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Cystinosis Research Network

CRN's vision is the discovery of improved treatments and ultimately a cure for cystinosis. CRN is a volunteer, non-profit organization dedicated to supporting and advocating research, providing family assistance and educating the public and medical communities about cystinosis.

http://www.cystinosis.org

Last Updated: 10 Oct 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 "Cystinosis" returned 90 free, full-text research articles on human participants. First 3 results:

Nephropathic cystinosis--a gap between developing and developed nations.
 

Author(s): Aurelia Bertholet-Thomas, Justine Bacchetta, Velibor Tasic, Pierre Cochat

Journal: N. Engl. J. Med.. 2014 Apr;370(14):1366-7.

 

Last Updated: 3 Apr 2014

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Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
 

Author(s): Jennifer L Johnson, Gennaro Napolitano, Jlenia Monfregola, Celine J Rocca, Stephanie Cherqui, Sergio D Catz

Journal: Mol. Cell. Biol.. 2013 Aug;33(15):2950-62.

 

Cystinosis is a lysosomal storage disorder caused by the accumulation of the amino acid cystine due to genetic defects in the CTNS gene, which encodes cystinosin, the lysosomal cystine transporter. Although many cellular dysfunctions have been described in cystinosis, the mechanisms ...

Last Updated: 11 Jul 2013

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The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
 

Author(s): Sepideh Shahkarami, Hamid Galehdari, Ali Ahmadzadeh, Mahnaz Babaahmadi, Mohammad Pedram

Journal: Nefrologia. 2013 ;33(3):308-15.

 

Nephropatic Cystinosis (NC) is a rare metabolic disorder due to mutation in the CTNS gene in which more than 90 different mutations have already been reported so far. This study was performed to investigate mutations of the CTNS gene and its promoter in a number of Iranian patients with NC.

Last Updated: 28 May 2013

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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 "Cystinosis" returned 7 free, full-text review articles on human participants. First 3 results:

[Practical markers of renal function in cystinosis patients].
 

Author(s): Luciana Pache de Faria Guimaraes, Letícia Aparecida Lopes Neri, Nairo Massakasu Sumita, Maria Helena Vaisbich

Journal: J Bras Nefrol. ;34(3):309-12.

 

Cystinosis is an autossomic recessive systemic disease that leads to renal insufficiency early in life unless cysteamine be started early. Unfortunately, even in this situation the patients will develop chronic renal disease with need of renal replacement therapy about second decade ...

Last Updated: 26 Oct 2012

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Cystinosis: the evolution of a treatable disease.
 

Author(s): Galina Nesterova, William A Gahl

Journal: Pediatr. Nephrol.. 2013 Jan;28(1):51-9.

 

Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously ...

Last Updated: 26 Nov 2012

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The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.
 

Author(s): Martijn J Wilmer, Francesco Emma, Elena N Levtchenko

Journal: Am. J. Physiol. Renal Physiol.. 2010 Nov;299(5):F905-16.

 

Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic disorders, of which nephropathic cystinosis is the most common. The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, ...

Last Updated: 4 Nov 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cure Cystinosis International Registry
 

Status: Recruiting

Condition Summary: Cystinosis; Nephropathic Cystinosis; Renal Fanconi Syndrome

 

Last Updated: 10 Mar 2014

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Use of Cysteamine in the Treatment of Cystinosis
 

Status: Recruiting

Condition Summary: Cystinosis

 

Last Updated: 4 Oct 2014

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Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
 

Status: Recruiting

Condition Summary: Cystinosis; Myopathy

 

Last Updated: 25 Apr 2014

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