Cystinosis

What is Cystinosis?

Cystinosis is a rare genetic disorder caused by a buildup of the amino acid cystine within the cells of the body. Symptoms typically appear in infancy and may include dehydration, weakness, delayed growth, eye and kidney damage, and other organ dysfunction. Treatment usually consists of medications, kidney transplantation, and dietary management.

Symptoms of Cystinosis

The symptoms of Cystinosis vary from person to person. The most common symptoms are:

• Dehydration
• Weakness
• Delayed growth
• Eye damage
• Kidney damage
• Organ dysfunction

Treatment for Cystinosis

Treatment for Cystinosis typically consists of several interventions. These include:

• Medications, such as cysteamine, which helps to reduce the symptom of cystine accumulation in organs and tissues
• Kidney transplantation
• A modified diet which is low in cystine

Living With Cystinosis

Living with a rare disorder like Cystinosis can be challenging. Treatment is ongoing and requires frequent monitoring by a physician. It is important to take care of yourself and to engage in activities and hobbies that you enjoy. Finally, it is important to educate yourself and your family about the disorder and to find support networks in order to cope with the challenges that come with living with a rare disorder.