Cystinosis is a rare, inherited disease that causes cystine to build up in the body, primarily affecting the eyes and kidneys. There are three types, with infantile and late-onset being the most severe. While there is no cure, treatment with cysteamine can slow the disease’s progression. Gene therapy is being researched as a potential cure.
Cystinosis is a rare and currently incurable autosomal inherited disease. It affects people of French ancestry most and is most common in France and Quebec. For the disease to be passed on to others, both parents must carry a recessive gene, and when they do, they have a one in four chance of passing on a faulty version of the cystinosis, neuropathic, or CTNS gene to their offspring.
The condition, when present, causes the amino acid cystine to build up, and this can primarily affect the eyes and kidneys, but it also affects other areas of the body. There are three types of cystinosis, which can partially determine the severity and outcome. Late-onset and infantile forms of the disease are the most severe, while benign cystinosis cannot cause blindness or kidney failure.
Infantile and late-onset cystinosis have similar symptoms and usually differ only in terms of when they occur. Infant versions can occur as early as 9 months, and late-onset tends to occur after age two, with the median age of onset in adolescents. Common symptoms for both types include:
Dehydration
Dehydration fever
Extra thirst and extra urination
Inability to thrive
Difficulty eating
Nausea
Kidney failure
Rickets
Benign cystinosis is usually not associated with most of these symptoms and may only be noticed if cystine crystals are seen in the eye or if elevated levels of cystine are found in the urine. However, unlike the infantile and late-onset forms, these high levels do not damage the kidneys or cause blindness, so this form is highly survivable without much intervention.
In the most severe forms of cystinosis, what is of particular concern is eye damage, possibly resulting in blindness, and kidney damage. High levels of cystine impair the kidneys’ ability to filter properly and this means that nutrients and minerals are wasted instead of being used by the body. Ultimately, this also results in kidney failure, and most people with the condition will eventually require dialysis and a kidney transplant. Since the CTNS gene was discovered, there is hope of creating a gene therapy that can tackle the disease.
While this disease is incurable, there are ways to halt or slow its progress. A drug called cysteamine lowers the levels of cystine in the body. There are also drops that can be placed in the eye, which can help reduce the development of cystine crystals there. Cysteamine isn’t considered a cure, but it certainly is a way to dramatically increase the time before kidney failure and other organ damage occurs. Early treatment dramatically improves outcome and is currently thought to be the best way to delay disease progression.
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