Cystinosis is a metabolic disease in which the amino acid cystine gets into the cells, but has no transporter out. Because of the defect in transportation, the cell crystallises causing early cell death. Cystinosis slowly destroys the organs in the body including the kidneys, liver, eyes, muscles and the brain.
Cystinosis occurs when the mechanism removing excess cystine, an amino acid, breaks down. It then accumulates within body cells preventing these cells from functioning correctly. This initially leads to kidney problems and progresses to other parts of the body, including the thyroid gland, eyes and liver. Impaired growth is yet another symptom of the condition. In the past, it was rare for cystinosis patients to survive into adulthood. However, with better understanding and earlier diagnosis, it is possible for sufferers to lead a longer, fuller life. It is one of the Cystinosis Foundation’s aims to help sufferers manage their cystinosis effectively in order to lead a fuller life.
Cystinosis is a rare inherited disease with an incidence, in developed countries, of about 1 case in every 200,000 live births. This figure may not be entirely accurate since it relies on the condition being recognised and reported. With such a rare disease affecting such a small population, research money is scarce to nonexistent. And yet research on complicated diseases like cystinosis often lead to advancements in other rare diseases.