The earlier the disease is recognized and treated, the less severe the progress is – as shown by data from the regular cystinosis clinic.
Unfortunately, the symptoms of cystinosis begin so slowly that the correct diagnosis is often not made until the age of two. At this point, however, organs such as the kidneys are already damaged irreversibly.
As part of a pilot project, genetic screening for cystinosis has therefore been offered in selected regions in Germany since January 2018 in addition to regular newborn screening, which is usually carried out on the third day of life. The project is carried out by the Cystinosis Foundation Germany and financed by donations and grants. Around 150,000 children are examined each year with the parents’ consent.