Cystinosis is a genetic metabolic disease that causes an amino acid, cystine, to accumulate in various organs of the body. Cystine crystals accumulate in the kidneys, eyes, liver, muscles, pancreas, brain, and white blood cells. Cystinosis is a rare disease that is typically diagnosed prior to age 2. Due to the lack of appropriate treatment, children with Cystinosis develop end-stage kidney failure at approximately age nine.
HOW IS CYSTINOSIS DIAGNOSED?
The diagnosis will be done by a Paediatrician or a general physician. A physical examination based on the symptoms will usually take place before the doctor conducts a gene test to find the faulty carrier gene with the help of a blood sample in a lab test.
HOW IS CYSTINOSIS TREATED?
Cystinosis is treated symptomatically. Renal tubular dysfunction requires a high intake of fluids and electrolytes to prevent excessive loss of water from the body (dehydration). Sodium bicarbonate, sodium citrate and potassium citrate may be administered to maintain the normal electrolyte balance. Phosphates and vitamin D are also required to correct the impaired uptake of phosphate into the kidneys and to prevent rickets. Carnitine may help to replace muscular carnitine deficiency. Cysteamine (Cystagon) has been approved by the Food and Drug Administration (FDA) for standard treatment of Cystinosis. In view of the harmful effects of chronic cystine accumulation, and the indications of the effectiveness of Cysteamine therapy in various tissues and organ systems, oral Cysteamine should be used by post-transplant Cystinosis patients. Procysbi (cysteamine bitartrate delayed release capsules) was approved by the FDA in May 2013.Cystaran (cysteamine ophthalmic solution) 0.44% is an ophthalmic solution approved by the FDA for the treatment of corneal cystine crystal accumulation in patients with cystinosis. Treatment with Cystaran should be started as soon as cystinosis has been diagnosed by your doctor and cystine crystals have been found within the corneas according to prescribing information.
DID YOU KNOW?
Cystine accumulates primarily in the cornea of eyes