What is cystinosis?

cystinosis is an autosomal disease that is rare and currently incurable. This is most affected by people of French origin and is the most common in France and Quebec. In order to be handed over to others, both parents must have a recessive gene for this, and when they do so, they have one of four chances to hand over a defective version of cystinosis, neuropathic or CTNS genes to children.

, if present, causes the accumulation of amino acid cystin, which can affect especially eyes and kidneys, but also affects other areas of the body. There are three types of cystinosis that can partially determine the severity and result. Infantile and late onset of the form of the disease are the most serious, while benign cystinosis may not cause blindness or kidney failure. Infantial versions may occur in the 9 months and sometimes tends to occur after two age, with average age in adolescents. The common symptoms of both types include:

• Dehydration
• fever from dehydration
• extRa thirst and other urination
• Inability is going well
• the difficulty of eating
• nausea/vomiting
• kidney failure
• means

Benign cystinosis is usually not associated with most of these symptoms and can only be noted if cystin crystals are observed in the eyes, or high levels of cystin are detected in the urine. Unlike infantile and late forms, however, these high levels do not damage the kidneys and do not cause blindness, so this form is highly surviving without much intervention.

In more severe forms of cystinosis, the eye damage is particularly disturbing, resulting in any blindness and kidney damage. High cystine levels disrupt the kidney ability to filter it properly and that is, nutrients and minerals are wasted instead of being used by the body. In the end, it also results in kidney failure and most people with this condition will be onEnd require dialysis and renal transplantation. Because the CTNS gene has been discovered, there is a hope that they will eventually create gene therapy that could solve the disease.

Although this disease is incurable, there are ways to stop or slow its progress. The cure called cysteamine lowers cystin levels in the body. There are also drops that can be placed in the eyes, which can help reduce the development of cystin crystals. Cysteamine is not considered a medicine, but it is certainly a way to significantly extend the time before kidney failure and other organ damage. Early treatment definitely improves the outcome and is currently considered the best way to postpone the progress of the disease.