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

[Nephropatic cystinosis: report of one case].
 

Author(s): Paola Krall, Daniela Nualart, Jean Grandy

Journal: Rev Med Chil. 2018 Jan;146(1):111-115.

 

Nephropatic cystinosis (NC) is a rare disease associated with pathogenic variants in the CTNS gene, with a common variant that consists of a 57kb-deletion involving CTNS. Patients with NC that are treated with cysteamine improve their life quality and expectancy. We report a 12-month-old ...

Last Updated: 31 Dec 1969

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Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
 

Author(s): Funda Bastug, Hulya Nalcacioglu, Fatih Ozaltin, Emine Korkmaz, Sibel Yel

Journal: Iran J Kidney Dis. 2018 01;12(1):61-63.

 

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome ...

Last Updated: 31 Dec 1969

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[Cysteamine ophthalmic hydrogel for the treatment of ocular cystinosis].
 

Author(s): Anxo Fernández-Ferreiro, Andrea Luaces-Rodríguez, Victoria Díaz-Tomé, María Gil-Martínez, María Teresa Rodríguez Ares, Rosario Touriño Peralba, José Blanco-Méndez, Miguel González-Barcia, Francisco Javier Otero-Espinar, María Jesús Lamas

Journal:

 

Ocular cystinosis is a rare disease characterised by the deposit of cystine crystals on the corneal surface, which hinder patients' eyesight. Oral cysteamine is given as cysteamine; however, it does not reach the cornea due to the lack of corneal vascularization making necessary ...

Last Updated: 31 Dec 1969

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

The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.
 

Author(s): Stephanie Cherqui, Pierre J Courtoy

Journal: Nat Rev Nephrol. 2017 Feb;13(2):115-131.

 

Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. It is caused by a defect in the lysosomal cystine transporter, cystinosin, which results in an accumulation of cystine in all organs. Despite the ubiquitous expression ...

Last Updated: 31 Dec 1969

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Cystinosis: a review.
 

Author(s): Mohamed A Elmonem, Koenraad R Veys, Neveen A Soliman, Maria van Dyck, Lambertus P van den Heuvel, Elena Levtchenko

Journal:

 

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective ...

Last Updated: 31 Dec 1969

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Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.
 

Author(s): Gema Ariceta, Juan Antonio Camacho, Matilde Fernández-Obispo, Aurora Fernández-Polo, Josep Gamez, Judit García-Villoria, Enrique Lara Monteczuma, Pere Leyes, Nieves Martín-Begué, Federico Oppenheimer, Manel Perelló, Guillem Pintos Morell, Roser Torra, Anna Vila Santandreu, Ana Güell,

Journal: Nefrologia. 2015 ;35(3):304-21.

 

Cystinosis is a rare lysosomal systemic disease that mainly affects the kidney and the eye. Patients with cystinosis begin renal replacement therapy during the first decade of life in absence of treatment. Prognosis of cystinosis depends on early diagnosis, and prompt starting and ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Use of Cysteamine in the Treatment of Cystinosis
 

Status: Recruiting

Condition Summary: Cystinosis

 

Last Updated: 31 Jul 2018

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Cure Cystinosis International Registry
 

Status: Recruiting

Condition Summary: Cystinosis; Nephropathic Cystinosis; Renal Fanconi Syndrome

 

Last Updated: 10 Mar 2014

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Biomarker for Cystinosis Disease
 

Status: Not yet recruiting

Condition Summary: Renal Fanconi Syndrome; Photophobia; Hypophosphatemia

 

Last Updated: 27 Aug 2018

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