Cystinosis is a congenital disease in which the body accumulates excess cystine, an amino acid that, when it is in excess inside the cells, produces crystals that impede the correct functioning of the cells and, therefore, this disease can affect several organs of the body, being divided into 3 main types:
- Nephropathic cystinosis : mainly affects the kidneys and arises in the baby, but can evolve to other parts of the body like the eyes;
- Intermediate cystinosis: it is similar to nephropathic cystinosis but begins to develop in adolescence;
- Ocular cystinosis : is the least serious type that affects only the eyes.
This is a genetic disease that can be discovered on a urine and blood test still in the baby, around 6 months of age. Parents and pediatricians may suspect the condition if the baby is very thirsty, urinating and vomiting too much and not gaining weight properly, with Fanconi syndrome suspected.
Main symptoms
Symptoms of cystinosis vary according to the affected organ, including:
Kidney cystinosis
- Increased thirst;
- Increased willingness to pee;
- Easy fatigue;
- Increased blood pressure.
Cystinosis in the eyes
- Pain in the eyes;
- Sensitivity to light;
- Difficulty in seeing, which can progress to blindness.
In addition, other signs such as difficulty swallowing, developmental delay, frequent vomiting, constipation or complications such as diabetes and changes in thyroid function, for example.
What causes cystinosis
Cystinosis is a disease caused by a mutation in the CTNS gene, which is responsible for the production of a protein known as cystinosine. This protein usually removes cystine from the inside of the cells, preventing it from accumulating inside.
When this buildup occurs, healthy cells are damaged and can not function normally, damaging the entire organ over time.
How is the treatment done?
Treatment is usually done from the time the disease is diagnosed, starting with the use of drugs such as cysteamine, which help the body eliminate some of the excess cisitin. However, it is not possible to completely prevent the progression of the disease and therefore, it is often necessary to have kidney transplantation when the disease has already affected the organ very seriously.
However, when the disease is present in other organs, transplantation does not cure the disease and, therefore, it may be necessary to maintain the use of the medication.
In addition, some symptoms and complications need a specific treatment, such as diabetes or thyroid disorders, in order to improve the quality of life of children.
