What is Cystinosis

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 within various organs and tissues, causing damage over time. The condition is typically diagnosed in early childhood and can have significant impacts on multiple systems in the body.

Symptoms: The symptoms of cystinosis can vary depending on the age of onset and the organs affected. Common signs include excessive thirst and urination, growth retardation, muscle wasting, kidney dysfunction, and eye problems such as photophobia and corneal crystals.

Treatment: While there is currently no cure for cystinosis, treatment aims to manage the symptoms and slow down the progression of the disease. This often involves a medication called cysteamine, which helps reduce cystine buildup. Additionally, individuals with cystinosis may require supportive therapies such as kidney transplantation, nutritional support, and regular monitoring of their overall health.

Prognosis: The prognosis for individuals with cystinosis has improved significantly in recent years due to advancements in treatment. With early diagnosis and appropriate management, many individuals can lead relatively normal lives and reach adulthood. However, the condition still requires lifelong medical care and monitoring to prevent complications and maintain overall well-being.