CYSTINOSIS

FEDERG referent and contact person
Claudia Sproedt
E-Mail: csproedt@leben-eben.com

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.

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More information on Cystinosis


Associations, member of FEDERG

Germany
Cystinose-Selbsthilfe e.V.
www.cystinose-selbsthilfe.de

Netherlands
Cystinose Groep Nederland

 

International associations

Cystinosis Australia
www.cystinosis.com.au

Brazil Cystinosis Support
www.rarediseasecommunities.org/fr/community/cystinose/article/cystinosis-support-group-in-the-northeast-of-brazil

Cystinosis France
www.cystinose.org

Cystinosis Support Germany
www.cystinose-selbsthilfe.de

Cystinosis Chapter India
www.sapiensfoundation.org/

Cystinosis Foundation Ireland
www.cystinosis.ie

Italian Cystinosis Association
www.cistinosi.it

Cystinosis Mexico AC
www.cystinosismexico.com

Cystinosis South Africa
www.charitysa.co.za/cystinosis-support-group-south-africa.html

Cystinosis Spain
grupocistinosis.org/cast/index.asp

Cystinosis UK
www.cystinosis.org.uk

Cystinosis Research Network USA
www.cystinosis.org

Cystinosis Foundation USA
www.cystinosis.com

Cystinosis Research Foundation USA
www.natalieswish.org

UCSD Cystinosis Central and Cystine Determination Lab
www.cystinosiscentral.org

 

On going Research Projects   
 
International Meetings & Events

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