Cystinosis: Treatment, Cost and Side Effects

Cystinosis is a rare genetic disorder that affects one out of every 100,000 to 200,000 people in the world. The disease results in the build-up of the amino acid cystine in the cells of the body. This can affect several portion of the human body and there is no known cure for the condition.

However, with advancement in medical technology, people with cystinosis now live much longer when compared to the average life expectancy of such people a few decades ago. Major portions of the body that are affected due to cystine build-up includes the eyes, liver, kidneys, thyroid, muscles, pancreas, spleen and more.

There are three kinds of cystinosis that affects humans. The first is known as nephropathic cystinosis. This is the most severe form of the condition and affects infants between the ages of 3 months and 6 months. The condition can deteriorate quickly and usually leads to kidney failure within the first ten years of the child’s life, if left untreated. However, the renal failure can be delayed with proper treatment

The second form of the disease is known as intermediate cystinosis. While the risk factor and the symptoms of this type is the same as that of the first form of the condition, the disorder occurs between ages 8 and 20 years. Lastly, non-nephropathic cystinosis is the mildest form of the condition that only occurs during adulthood. In this form of the disease, patients are not at risk of renal failure.

Cystinosis is a rare hereditary disorder that is caused only when both the parents have a faulty CTNS gene. However, only 25 percent of the people that inherit faulty CTNS genes from both parents develop cystinosis. Doctors can usually diagnose the condition by using a number of techniques and tests

A doctor may suspect cystinosis and schedule a blood test, where the patient’s white blood cells will be checked for the presence of cystine. This diagnostic procedure is known as white blood cell cystine test. Often a regular eye checkup may also reveal the presence of the disease. If a split lamp test is conducted on the eye, doctors will be able to find cystine deposits in the cornea of the patient’s eyes. Lastly, genetic testing may also be required to ascertain the presence of faulty CTNS genes and other mutations.

At the moment cysteamine is the only medication for patients suffering from the condition. The drug reduces the level of cystine in the cells and patients will need to take the medication for the rest of their life. Aside from the drug usage, doctors will regularly conduct blood tests to ensure the efficacy of the treatment. In severe cases, kidney transplant may be necessary in order to save the life of the patient.

People diagnosed with cystinosis will require the treatment. The form of treatment may depend on the severity and the type of the condition. For instance, if the patients suffers from non-nephropathic cystinosis, only medication may be required, while for the other two types medication and kidney transplant may be required along with phosphate supplements.

People who do not suffer from cystinosis should not seek treatment for the disease. For instance, people suffering from other kidney disorders or eye disorders should not be treated with cysteamine, but with medication for the disease that they are affected by.

The only major drug used for the treatment is known as cysteamine. While the drug is essential for patients, it may lead to a few side effects. Common side effects include nausea, fever, vomiting, drowsiness, diarrhea and loss of appetite. Some people may also experience flu symptoms, dizziness and chills.

Apart from the side effects of the medication, there may be some effects in case of kidney transplant surgery.

The treatment will continue for the rest of the life and during this time, the patient will need to maintain a strict control of their diet and lifestyle. For instance, such a patient will need to stay away from alcohol and smoking, in order to reduce further damage to the health.

There is no cure for the disease and the medication can only manage the abnormal levels of cystine in the body. Patients will need to remain under medication for the rest of their lives. However, modern medicine has made it possible for people with the disease to live into their 50’s under proper medical supervision.

Price of treatment depends on the dosage of the medication required and whether or not kidney transplant is needed. Since cysteamine is not available in India and needs to be imported into the country, the price of the treatment will be quite high. A year’s worth of the medication will cost anywhere around Rs. 4 Lakh.

Results of the treatment are not permanent. If the medication is stopped at any point of time, cystine levels will increase and the symptoms may increase. Furthermore, even a kidney transplant does not cure the condition and the new kidney may also be affected if proper medication and supplements are not used.

There are no dependable alternative forms of treatment for the condition. Cysteamine drugs will be required to bring the cystine levels down in the cells of the body.