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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Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes.
 

Author(s): Ilya Gertsman, Wynonna S Johnson, Connor Nishikawa, Jon A Gangoiti, Bonnie Holmes, Bruce A Barshop

Journal: Clin. Chem.. 2016 May;62(5):766-72.

 

Cystine determination is a critical biochemical test for the diagnosis and therapeutic monitoring of the lysosomal storage disease cystinosis. The classical mixed-leukocyte cystine assay requires prompt specialized recovery/isolation following blood drawing, providing cystine concentrations ...

Last Updated: 29 Apr 2016

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Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model.
 

Author(s): H P Gaide Chevronnay, V Janssens, P Van Der Smissen, C J Rocca, X H Liao, S Refetoff, C E Pierreux, S Cherqui, P J Courtoy

Journal: Endocrinology. 2016 Apr;157(4):1363-71.

 

Hypothyroidism is the most frequent and earliest endocrine complication in cystinosis, a multisystemic lysosomal storage disease caused by defective transmembrane cystine transporter, cystinosin (CTNS gene). We recently demonstrated in Ctns(-/-) mice that altered thyroglobulin biosynthesis ...

Last Updated: 2 Apr 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 "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: 19 Dec 2016

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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: 22 Apr 2016

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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: 30 Oct 2015

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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: 30 Jun 2017

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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 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: 18 Jan 2017

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