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 to support bench, clinical and translational cystinosis research to find better treatments and find a cure for cystinosis.

Last Updated: 26 Jan 2015

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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 to support bench, clinical and translational cystinosis research to find better treatments and find a cure for cystinosis.

http://www.cystinosisresearch.org/

Last Updated: 26 Jan 2015

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

Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis.
 

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

Journal:

 

Metabolite accumulation in lysosomal storage disorders (LSDs) results in impaired cell function and multi-systemic disease. Although substrate reduction and lysosomal overload-decreasing therapies can ameliorate disease progression, the significance of lysosomal overload-independent ...

Last Updated: 4 Feb 2015

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Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis.
 

Author(s): Reham Aly, Samuel Makar, Azza El Bakri, Neveen A Soliman

Journal: Saudi J Kidney Dis Transpl. 2014 Nov;25(6):1224-31.

 

Children with nephropathic cystinosis (NCTN) have evidence of defective intellectual functions and behavioral disorders. This prospective study was performed to detect the cognitive dysfunctions in patients with this rare hereditary lysosomal storage disease, define their behavioral ...

Last Updated: 14 Nov 2014

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Quality of life is improved and kidney function preserved in patients with nephropathic cystinosis treated for 2 years with delayed-release cysteamine bitartrate.
 

Author(s): Craig B Langman, Larry A Greenbaum, Paul Grimm, Minnie Sarwal, Patrick Niaudet, Georges Deschenes, Elisabeth A M Cornelissen, Denis Morin, Pierre Cochat, Ewa Elenberg, Christian Hanna, Segolene Gaillard, Mary Jo Bagger, Patrice Rioux

Journal: J. Pediatr.. 2014 Sep;165(3):528-33.e1.

 

To determine the long-term effects of delayed-release cysteamine bitartrate (DR-CYS) based on our previous work that established the short-term noninferiority of DR-CYS every 12 hours compared with immediate-release cysteamine bitartrate every 6 hours.

Last Updated: 25 Aug 2014

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

Nephropathic cystinosis: an international consensus document.
 

Author(s): Francesco Emma, Galina Nesterova, Craig Langman, Antoine Labbé, Stephanie Cherqui, Paul Goodyer, Mirian C Janssen, Marcella Greco, Rezan Topaloglu, Ewa Elenberg, Ranjan Dohil, Doris Trauner, Corinne Antignac, Pierre Cochat, Frederick Kaskel, Aude Servais, Elke Wühl, Patrick Niaudet, William Van't Hoff, William Gahl, Elena Levtchenko

Journal: Nephrol. Dial. Transplant.. 2014 Sep;29 Suppl 4():iv87-94.

 

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of ...

Last Updated: 28 Aug 2014

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Is genetic rescue of cystinosis an achievable treatment goal?
 

Author(s): Stephanie Cherqui

Journal: Nephrol. Dial. Transplant.. 2014 Mar;29(3):522-8.

 

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The defective gene is CTNS, which encodes the lysosomal cystine transporter, cystinosin. Cystine accumulates in all tissues and leads to organ damage including end-stage ...

Last Updated: 3 Mar 2014

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[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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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: 13 Dec 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: 20 Dec 2014

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