What is the life expectancy of cystinosis?

Without treatment, life expectancy is approximately ten years of age; with treatment, patients may survive until middle age. In the juvenile form, the age of onset and the age of renal failure are delayed relative to the infantile form.

What is nephropathic cystinosis treatment?

The mainstay of therapy for nephropathic cystinosis is cystine reduction therapy with cysteamine bitartrate compounds. Such therapy reduces lysosomal cystine through the formation of cystine into a mixed disulfide cysteamine-cystine complex that exits the lysosome via an intact PQLC2-transporter (Figure 3).

What is nephropathic cystinosis?

Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder leading to end-stage renal disease and many extra-renal complications with crystal deposition in the conjunctiva and cornea being the most prominent.

How many cases of cystinosis are there?

Cystinosis affects approximately 1 in 100,000 to 200,000 newborns worldwide. The incidence is higher in the province of Brittany, France, where the disorder affects 1 in 26,000 individuals.

Does cystinosis affect the brain?

Collective data from MRI scans, CT scans, and autopsies has revealed that cystinosis is associated with altered brain structure and increased levels of cystine in many areas of the brain8–12.

How do you know if you have cystinosis?

The adult form of Cystinosis primarily affects the eyes, causing light sensitivity. Cystinosis is caused by genetic changes (DNA variants) in the CTNS gene and is inherited in an autosomal recessive pattern. It is diagnosed by checking for cystine levels in the blood, by genetic testing, or by an eye examination.

What type of doctor treats cystinosis?

A nephrologist is a specialist in kidney disease and is the primary healthcare provider for cystinosis patients.