What is cystinosis?

Cystinosis is a rare, genetic disease, which is mostly diagnosed early in childhood, usually before the age of two. It is autosomal recessive, which means that it is inherited when a child receives two copies of an abnormal gene, one copy from each parent. Because the parents each have only one abnormal gene, they are not affected.

It is estimated that cystinosis occurs in somewhere between 1 in 100,000 to 1 in 200,000 live births. There are 10 to 15 new cases of cystinosis diagnosed each year in Europe.

The problem in cystinosis is an increase in many parts of the body an amino acid called cystine. This build up causes cystine crystals to form in many organs of the body. These crystals form firstly in the kidneys and the eyes, late complications can occur in muscles, pancreas, thyroid gland and in other parts of the body.

There is a specific treatment for Cystinosis, but there is no cure. Children with cystinosis are experiencing much better outcomes and many young adults are living happy and active lives. But we still have a long way to go.

More detailed information has been developed by Cystinose Groep Nederland.  This brochure was created as a collaborative effort between Dutch Cystinosis Group (member of VKS: Adults, Children and Metabolic Diseases), the Collaborative Association of Parent and Patient Organisations (VSOP) and the Dutch College of General Practitioners (NHG).