What is Cystinosis?
Cystinosis is a rare, inherited metabolic disorder that affects the body's ability to process the amino acid cystine. It is caused by a mutation in the CTNS gene, which is responsible for producing the protein cystinosin. This protein helps to transport cystine out of cells, but when it is defective, cystine accumulates in the cells and causes damage. Symptoms of cystinosis include kidney failure, growth retardation, and vision problems. Treatment typically involves taking cysteamine, a medication that helps to reduce the amount of cystine in the cells.
What are the symptoms of Cystinosis?
The most common symptoms of cystinosis include:
-Failure to thrive
What are the causes of Cystinosis?
Cystinosis is caused by a genetic mutation in the CTNS gene, which is responsible for producing the protein cystinosin. This mutation results in an inability to transport the amino acid cystine out of cells, leading to its accumulation in various organs and tissues. This accumulation can cause a variety of symptoms, including kidney failure, growth retardation, and vision problems.
What are the treatments for Cystinosis?
The primary treatment for cystinosis is cysteamine (Cystagon), a medication that helps reduce the amount of cystine in the cells. Other treatments may include a low-protein diet, vitamin supplements, and medications to help manage symptoms such as kidney failure, dehydration, and electrolyte imbalances. In some cases, a kidney transplant may be necessary.
What are the risk factors for Cystinosis?
The primary risk factor for cystinosis is a genetic mutation in the CTNS gene. This gene mutation is inherited in an autosomal recessive pattern, meaning that both parents must pass on the mutated gene for a child to be affected. Other risk factors include family history of cystinosis, being of Ashkenazi Jewish descent, and having a parent with a CTNS gene mutation.
Is there a cure/medications for Cystinosis?
Yes, there is a medication called cysteamine (Cystagon) that is used to treat cystinosis. It helps to reduce the amount of cystine in the cells and can help to improve kidney function. Additionally, there are other medications that can be used to help manage the symptoms of cystinosis, such as diuretics, phosphate binders, and medications to help control electrolyte levels.