FEDERG referent and contact person
Claudia Sproedt

Cystinosis is a rare disease that is typically diagnosed prior to age 2. Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age nine. Cystinosis also causes complications in other organs than the kidneys. The complications include muscle wasting, difficulty swallowing, diabetes, and hypothyroidism, crystals in the eyes may cause problems too. It is estimated that at least 2.000 individuals worldwide have cystinosis, though exact numbers are difficult to obtain because the disease is often undiagnosed and/ or misdiagnosed. New treatments, and research of Cystinosis are giving hope for a bright future for children and adults with Cystinosis. Over the last 20 years, the prognosis of a child born with Cystinosis has greatly improved.


More information on Cystinosis

Associations, member of FEDERG

Cystinose-Selbsthilfe e.V.

Cystinose Groep Nederland


International associations

Cystinosis Australia

Brazil Cystinosis Support

Cystinosis France

Cystinosis Support Germany

Cystinosis Chapter India

Cystinosis Foundation Ireland

Italian Cystinosis Association

Cystinosis Mexico AC

Cystinosis South Africa

Cystinosis Spain

Cystinosis UK

Cystinosis Research Network USA

Cystinosis Foundation USA

Cystinosis Research Foundation USA

UCSD Cystinosis Central and Cystine Determination Lab


On going Research Projects   
International Meetings & Events

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