Cystinosis is a congenital disease in which the body accumulates an excess of cystine, an amino acid that, when excess in cells, produces crystals that prevent cells from functioning properly and, therefore, this disease can affect various organs of the body, which is divided into 3 main types:
This is a genetic disease that can be discovered during a blood and urine test on a baby around 6 months of age. Parents and pediatricians may suspect the condition if the baby is still very thirsty, urine and vomits a lot and does not gain weight properly, and Fanconi syndrome is suspected.
Symptoms of cystinosis vary depending on the affected organ and may include:
In addition, there may also be other signs such as difficulty swallowing, developmental delay, frequent vomiting, constipation or complications such as diabetes and changes in thyroid function, for example.
Cystinosis is a disease caused by a mutation in the CTNS gene, responsible for the production of a protein called cystinsine, a protein that usually removes cystine from inside cells, preventing it from accumulating inside.
When this buildup occurs, healthy cells become damaged and do not function normally, damaging the entire organ over time.
Treatment is usually done from the moment the disease is diagnosed, starting with the use of medications, such as cysteamine, that help the body remove some of the excess cystine; however, it is not possible to completely prevent the progression of the disease and therefore it is often necessary to undergo a kidney transplant, when the disease has already affected the organ very severely.
However, when the disease is present in other organs, the transplant does not cure the disease and therefore it may be necessary to continue using the medicine.
In addition, some symptoms and complications require specific treatment, such as diabetes or thyroid disorders, to improve children’s quality of life.