What are the first steps after an initial diagnosis of cystinosis?

After getting a diagnosis of cystinosis, people will go through a series of tests to see how far along the disease is. These tests will tell a physician what parts of the body are affected and to what extent. For example, tests will be used to tell how well the kidneys are working. Most people will immediately be put on drugs that lower the levels of cystine in the body. Early treatment is important because these drugs can slow the development or progression of symptoms. Other initial steps will depend on how the disorder is affecting a person. For example, some children may need to take nutritional supplements because of feeding problems or kidney disease. Families should see a cystinosis specialist and/or a geneticist and a genetic counselor to help understand the genetic aspects of this disorder. A list of doctors who specialize in cystinosis can be found on the Cystinosis Research Network Expert doctor list. To find a genetic counselor near you, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Besouw MTP, Levtchenko EN. Improving the prognosis of nephropathic cystinosis. Int J Nephrol Renovasc Dis. 2014; 7: 297-302. Accessed March 22, 2016.

Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013;28(1):51-59. Accessed March 22, 2016.

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