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.

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.

Last Updated: 21 Oct 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
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

Go To URL
Inhibition of intracellular clusterin attenuates cell death in nephropathic cystinosis.
 

Author(s): Poonam Sansanwal, Li Li, Minnie M Sarwal

Journal: J. Am. Soc. Nephrol.. 2015 Mar;26(3):612-25.

 

Nephropathic cystinosis, characterized by accumulation of cystine in the lysosomes, is caused by mutations in CTNS. The molecular and cellular mechanisms underlying proximal tubular dysfunction and progressive renal failure in nephropathic cystinosis are largely unclear, and increasing ...

Last Updated: 28 Feb 2015

Go To URL

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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

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

Go to URL
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

Go to URL
Use of Cysteamine in the Treatment of Cystinosis
 

Status: Recruiting

Condition Summary: Cystinosis

 

Last Updated: 2 Dec 2015

Go to URL