Nephropathic cystinosis

Common Name(s)

Nephropathic 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 "Nephropathic cystinosis" for support, advocacy or research.

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Cystinosis Foundation Ireland

Our prime mission is to raise funds to promote research into the causes of cystinosis, to research improved treatments and to one day to find a cure. We also aim support to those living with cystinosis and to raise awareness among the medical community and general public in Ireland about the disease.

Last Updated: 21 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Cystinosis Foundation Ireland

Our prime mission is to raise funds to promote research into the causes of cystinosis, to research improved treatments and to one day to find a cure. We also aim support to those living with cystinosis and to raise awareness among the medical community and general public in Ireland about the disease.

http://www.cystinosis.ie

Last Updated: 21 Oct 2013

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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 "Nephropathic cystinosis" returned 33 free, full-text research articles on human participants. First 3 results:

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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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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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nephropathic cystinosis" returned 2 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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Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.
 

Author(s): Ekaterini Tsilou, Min Zhou, William Gahl, Pamela C Sieving, Chi-Chao Chan

Journal: Surv Ophthalmol. ;52(1):97-105.

 

Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation ...

Last Updated: 10 Jan 2007

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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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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