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Your resource
to learn
about
cystinosis

Cystinosis is a rare, inherited lysosomal storage disorder caused by a mutation in the CTNS gene.

This gene codes for the cystine transporter cystinosin; defective function of this molecule leads to intracellular accumulation of cystine in all organs and tissues.1

With a yearly incidence of 1 in 150,000–200,000 live births and a prevalence of 1–2 per million, cystinosis is a progressive, lifelong, multisystemic disorder that affects all organs and tissues throughout the body.1

There are different types of cystinosis. The most common form is nephropathic cystinosis, accounting for 95% of patients,1 which is what this site will focus on.

Explore the sections below to find out more

Kidneys

Disease background

Types of cystinosis and pathophysiology of nephropathic cystinosis

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People

Identifying symptoms

Clinical characteristics of cystinosis through different life stages

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Lens

Diagnosing cystinosis

Investigations required to support a diagnosis of cystinosis

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Pill

General management

Recommendations for management and monitoring of cystinosis patients

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Notes

Clinical recommendations

Explore the cystinosis Clinical Decision Support Programme (CDSP)

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Tools

HCP tools and resources

Useful tools and resources for you and your patients

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References
1. Levtchenko E, et al. Clin Kidney J 2022;15(9):1675–1684.