What is Cystinosis?

This inherited disease damages some of the vital organs of the body. Cystinosis is rare disease that damages the muscles and the eyes. Many cases of cystinosis often go unnoticed if not severe. The disease is a result of some genetic disorder, which occurs due to the presence of amino acid.

If the amino acids accumulate in the cells it passes on to the urine, which results in excessive urination. Apart from that the phosphates, and potassium level of the blood is lowered. Amino acids also damage the kidneys, brain as well as the pancreas. The presence of excess amino acids leads to the damage of the body cells. This is thus a disease that is caused mainly by the presence of amino acids and carbohydrates in the urine.

Children suffering from cystinosis inherit the faulty gene from both the parent. It is not necessary that the parents are carrier of the disease, as they must be having one healthy gene, which supports the faulty one. But if both the parents pass on the faulty genes to the child, then the child becomes the carrier of the disease.

The disease starts to develop if the faulty gene does not get any kind of support from a healthy gene. Sometimes a person is suddenly affected with the disease. The disease is also responsible for many childhood deaths. A person suffering from this disease requires special medical attention. Without proper treatment the kidneys might stop functioning and eventually the patient might require a transplant

Cystinosis Symptoms

The disease of cystinosis is generally of three types. They can either be infantile, late-onset and benign. Mostly children suffer from infantile cystinosis. The disease is not diagnosed at the time of the birth and the child starts showing within the first two years. The common symptoms that are seen in a child are improper growth of the body. The child does not have a good appetite.

They are likely to urinate more than the normal people and might suffer from rickets and dehydration. These symptoms occur due to the malfunctioning of the kidneys. The filtering units of the kidney get damaged and this leads to the loss of minerals and salts from the urine. All these damages affect the health of the child and they require immediate medical attention.

Occurrence of cystinosis damages the pancreas resulting in its improper functioning. It also damages the retina resulting in a loss of sight. The patient might suffer from hypothyroidism. Children around the age of 12 also show sign of late-onset cystinosis. The symptoms are similar to that of infantile cystinosis but the severity is much less.

The patient might suffer from kidney problem but it can be easily brought under control. However there is no indication of kidney damage when a person is suffering from benign cystinosis. Here the symptoms are not at all severe and the disease is discovered just by chance. Mostly the disease is diagnosed when a person undergoes an eye test. Though there are some changes in the eyes the retina is intact.

Cystinosis Treatment

As the disease is a result of faulty genes treatment is given to gain control over the symptoms of the disease. As the children suffer from dehydration they are advised to drink more fluid. Drinking more fluid, helps to compensate the loss of the nutrients. Patients are made to drink sodium solutions.

Children suffering from rickets require additional dose of vitamin D. Thyroxin is prescribed to treat hypothyroidism. Main attention is placed on treating the symptoms or the diseases that accompany cystinosis. As the growth is improper children are also administered extra dose of hormones for effective growth.

The children who suffer from cystinosis have some problems with their kidneys. They do not function properly and this often leads to the loss of essential salts and minerals. The loss of salts hampers the effective functioning of the body and often leads to rickets. The children who do not receive adequate treatment suffer from total failure of the kidney.

They also suffer from eye problems. They become highly sensitive to light. Sometimes they also suffers from total blindness. They face problem while swallowing their food. Proper treatment is very essential to curb the disease to some extent. As the disease has a genetic cause the expectant parents should take effective steps so that their children do not suffer from this disease.