- Main symptoms
- Kidney cystinosis
- Cystinosis in the eyes
- What causes cystinosis
- How the treatment is done
Cystinosis is a congenital disease in which the body accumulates excess cystine, an amino acid that, when it is in excess within the cells, produces crystals that prevent 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 such as the eyes; Intermediate cystinosis: it is similar to nephropathic cystinosis but begins to develop in adolescence; Ocular cystinosis: it is the least severe type that affects only the eyes.
This is a genetic disease that can be discovered in a urine and blood test as a baby, around 6 months of age. Parents and pediatricians may suspect the disease if the baby is always very thirsty, urinates and vomits a lot and does not gain weight properly, with a suspicion of Fanconi syndrome.
Main symptoms
Symptoms of cystinosis vary according to the affected organ, and may include:
Kidney cystinosis
- Increased thirst; Increased urge to pee; Easy tiredness; Increased blood pressure.
Cystinosis in the eyes
- Eye pain; Sensitivity to light; Difficulty seeing, which can develop into blindness.
In addition, there may also be other signs such as difficulty in 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 inside cells, preventing it from building up inside.
When this buildup occurs, healthy cells are damaged and fail to function normally, damaging the entire organ over time.
How the treatment is done
Treatment is usually done from the moment the disease is diagnosed, starting with the use of medicines, such as cysteamine, which help the body to eliminate 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 have a kidney transplant, when the disease has already affected the organ in a very serious way.
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 medication.
In addition, some symptoms and complications need specific treatment, such as diabetes or thyroid disorders, in order to improve children's quality of life.
