Cystinosis is a rare genetic disorder that affects the body's ability to transport the amino acid cystine out of cells. This leads to a buildup of cystine in various organs and tissues, including the kidneys, eyes, liver, muscles, and brain. Cystinosis is typically diagnosed in childhood and can have significant implications for a person's health.
Although the exact cause of cystinosis is still not fully understood, it is known to be an autosomal recessive condition. This means that both parents must carry a specific gene mutation for their child to be affected. If both parents are carriers, there is a 25% chance of their child having cystinosis.
There are three main forms of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. Nephropathic cystinosis is the most severe form and primarily affects the kidneys, leading to renal failure if left untreated.
Cystinosis is a challenging condition that requires ongoing medical care and support. Early diagnosis and intervention are crucial in improving outcomes for individuals with cystinosis and ensuring the best possible quality of life.
Cystinosis is a rare genetic disorder that affects the body's ability to transport the amino acid cystine out of the cells. This leads to the buildup of cystine crystals in various organs, causing severe damage over time. While there is no cure for cystinosis, several treatment options can help manage the condition and improve the quality of life fo...
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