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

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis.
 

Author(s): Vaishali More, Preeti Shanbag

Journal: Saudi J Kidney Dis Transpl. 2016 May;27(3):598-601.

 

Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder. We describe the clinical features in a four and a ...

Last Updated: 24 May 2016

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Pancytopenia in a patient with cystinosis secondary to myelosuppression from cystine crystal deposition: a case report.
 

Author(s): Yung Lyou, Xiaohui Zhao, Chaitali S Nangia

Journal:

 

Cystinosis is a rare metabolic genetic disorder caused by a mutation in the cystinosin lysosomal cystine transporter gene. Clinically, it is characterized by systemic accumulation of cystine crystals in tissues causing end-organ dysfunction in the kidney, eyes, muscles, and other ...

Last Updated: 17 Sep 2015

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Excellent long-term outcome of renal transplantation in cystinosis patients.
 

Author(s): Camille Cohen, Marina Charbit, Bernadette Chadefaux-Vekemans, Magali Giral, Valérie Garrigue, Michèle Kessler, Corinne Antoine, Renaud Snanoudj, Patrick Niaudet, Henri Kreis, Christophe Legendre, Aude Servais

Journal:

 

Cystinosis is a rare lysosomal disorder leading to end stage renal disease in more than 90 % of patients before 20 years of age. Data about safety and efficiency of renal transplantation in patients with cystinosis is scarce. We evaluated long-term outcomes of renal transplantation ...

Last Updated: 25 Jul 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 "Cystinosis" returned 10 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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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

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 Sep 2016

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Biomarker for Patient With Cystinosis Disease or Highly Suspected for Cystinosis Disease
 

Status: Recruiting

Condition Summary: Cystine Storage Disease; Cystinosis, Nephropathic; Lysosomal Cystine Transport Protein, Defect Of

 

Last Updated: 14 Jul 2016

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