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Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD


Cystinosis is a lysosomal storage disease characterized by an accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction. Three forms of cystinosis have been described: the infantile (nephropathic) form (MIM #219800), the late-onset (juvenile) form (MIM #219900); and the adult (benign) form (MIM #219750).The diagnosis, treatment, and outcome of cystinosis and the clinical features of the three different forms of cystinosis will be discussed here.


Infantile cystinosis, also referred to as nephropathic cystinosis, is the most common form of cystinosis and is estimated to affect 1 of every 100,000 to 200,000 children [1-4]. There appears to be a higher incidence in some regions, such as Brittany in France or Saguenay-Lac-Saint-Jean, Quebec in Canada, due to founding cystinosis mutations [5-7].


Cystine is derived from protein degradation within the lysosomes of cells. Free cystine is normally transported through the lysosomal membrane to the cytosol where it is reutilized after its transformation to cysteine. In cystinosis, cystine accumulates inside the lysosomes because of a defect in the gene that encodes cystinosin, the protein that transports cystine across the lysosomal membrane [8-13]. Cystine is poorly soluble and forms crystals as its concentration increases.

Cell and tissue injury — It is not clear how cystine accumulation results in cellular dysfunction [8]. The following observations have been made:

Cystine depletes the glutathione cell pool, thereby favoring oxidative stress and apoptosis [14,15].

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Literature review current through: Nov 2017. | This topic last updated: Oct 23, 2017.
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