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 43 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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Chiari I Malformation in Nephropathic Cystinosis.
 

Author(s): Kavya I Rao, John Hesselink, Doris A Trauner

Journal: J. Pediatr.. 2015 Nov;167(5):1126-9.

 

To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population.

Last Updated: 25 Nov 2015

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Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
 

Author(s): Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth Am Cornelissen, Dirk J Lefeber, Leo Ab Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman, Elena Levtchenko

Journal:

 

Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine determination forms the basis for the diagnosis and therapeutic monitoring ...

Last Updated: 28 Apr 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 "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 Genetics Home Reference.

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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: 6 Dec 2016

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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: 14 Jul 2016

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