Cystinosis

Overview

What is cystinosis?

Cystinosis is a genetic condition in which an amino acid called cystine builds up in the cells of the body as a result of changes or mutations in a gene called CTNS. Due to these CTNS gene mutations, people with cystinosis lack enough of an enzyme called cystinosin. Cystinosin helps move, or transport, cystine out of the cells. If people lack this enzyme or if the enzyme doesn't work properly, then cystine will build up in the cells. As cystine builds up it forms crystals which interrupt cell function leading to early cell death and organ damage.

Although any muscle can be damaged by high levels of cystine,the kidneys and eyes are most often affected in people with cystinosis. The liver, muscles, pancreas, and brain are also commonly affected. Cystinosis can be very different in how it affects people. Three different forms have been identified: nephropathic cystinosis, about 95% of people who have cystinosis have this form; juvenile nephropathic cystinosis, about 3% of people with cystinosis have this form; and non-nephropathic cystinosis. Even within each type of cystinosis people will have different health problems and speed of disease progression.

There are FDA approved treatments for cystinosis; however, it is important to diagnose and treat cystinosis early to slow down the disease and have the best health outcomes. Doctors treat the disorder with drugs that lower the levels of cystine in the body and specifically in the eyes. Even with treatment, most people who have nephropathic or intermediate cystinosis will eventually need a kidney transplant.

References
  • Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013;28(1):51-59. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3505515/ Accessed March 22, 2016.
  • Nesterova G, Gahl WA. Cystinosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1400/ Updated January 30, 2014. Accessed March 22, 2016.
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Are there other names for nephropathic cystinosis?

How common is cystinosis?

What are the subtypes of cystinosis?

Are there other names for nephropathic cystinosis?

Cystinosis may also be known as:

  • CTNS
  • Defect of cystinosin
  • Defect of lysosomal cystine transport protein
References
  • Nephropathic Cystinosis. Online Mendelian Inheritance in Man (OMIM) website. http://omim.org/entry/219800. Updated August 30, 2012. Accessed March 22, 2016.
  • Cystinosis. National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/cystinosis/ Updated 2014. Accessed March 22, 2016.
How common is cystinosis?

Cystinosis affects around 1 out of every 100,000 to 200,000 people in the general population. The disorder has been reported in individuals of every ethnic group and throughout the world. Cystinosis causes about 5% of all instances of childhood kidney failure.

References
  • Nesterova G, Gahl WA. Cystinosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1400/ Updated January 30, 2014. Accessed March 22, 2016.
What are the subtypes of cystinosis?

The different forms of cystinosis are:

  • Nephropathic cystinosis, also known as infantile nephropathic cystinosis. This form becomes apparent within the first year of life.
  • Juvenile nephropathic cystinosis, also known as intermediate cystinosis or adolescent nephropathic cystinosis. This form becomes apparent between 6-8 years of age.
  • Non-nephropathic cystinosis, also known as ocular cystinosis. Primarily affects the eyes, causing bright lights to hurt the eyes (photophobia). This form becomes apparent during adulthood.
References
  • Nesterova G, Gahl WA. Cystinosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1400/ Updated January 30, 2014. Accessed March 22, 2016.

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