Chapter: Cystinosis
McMaster Section Editor(s): Christine M. Ribic, Karen C.Y. To
Section Editor(s) in Interna Szczeklika: Franciszek Kokot, Robert Drabczyk
McMaster Author(s): Sultan Chaudhry, Christian Rabbat
Additional Information

Definition, Etiology, Clinical FeaturesTop

Cystinosis is caused by mutations in the CTNS gene (found on chromosome 17), which encodes a lysosomal cystine/proton symporter termed cystinosin. In the absence of a functional cystinosin protein, cystine accumulates and crystallizes in the lysosomal lumen. Like in other tissues, cystine accumulates in the renal tubules and the interstitium, leading to tubular dysfunction and end-stage renal disease (ESRD).

Cystinosis has 3 forms:

1) The infantile form, also called nephropathic, is the most severe and presents at the age of 3 to 6 months, manifesting as Fanconi syndrome (see Proximal [Type 2] Renal Tubular Acidosis); such children develop ESRD by the age of 10 years.

2) The late-onset form, also known as juvenile, occurs usually around the age of 10 years, and the presentation as Fanconi syndrome is less common. Nephrotic range proteinuria can be a presenting feature. Patients develop ESRD around the age of 15 years.

3) The adult-onset form, which is usually a benign form of the disease, may have only ocular manifestations of photophobia or ocular discomfort.


Diagnosis is made by measuring intraleukocyte cystine content, slit-lamp examination of the eye, and/or testing for the CTNS gene sequence.


Recommended therapy following confirmation of the diagnosis is cysteamine, a chaperone protein that allows for effective excretion of cystine from the cells, preventing tissue deposition and damage. This has been shown to preserve renal function and prevent other end-organ manifestations of the disease.

Patients who undergo transplantation for ESRD resulting from cystinosis, as long as they remain on cysteamine thereafter, have a very indolent course of cystinuria with no recurrence.

We would love to hear from you

  • Do you have any comments?
  • Have you found a mistake?
  • Would you like to suggest a feature?

We use cookies to ensure you get the best browsing experience on our website. Refer to our Cookies Information and Privacy Policy for more details.