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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General Support Organizations

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

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report.
 

Author(s): Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito

Journal:

 

Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic ...

Last Updated: 31 Dec 1969

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Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.
 

Author(s): Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta

Journal:

 

Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing nations [DiN] experience many challenges for management ...

Last Updated: 31 Dec 1969

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CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
 

Author(s): Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A Gahl, Babak Behnam

Journal: Nefrologia. ;37(3):301-310.

 

In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1-17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.

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 "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: 31 Dec 1969

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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: 31 Dec 1969

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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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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: 5 Feb 2018

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Pilot Study of Metformin for Patients With Fanconi Anemia
 

Status: Recruiting

Condition Summary: Fanconi Anemia

 

Last Updated: 24 Apr 2018

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