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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?
In all patients presenting with failure to thrive during the first years of life, renal Fanconi syndrome should be excluded by a paediatrician. The true diagnosis of Cystinosis is based on the measurement of elevated cystine content in blood cells and molecular analysis of the CTNS gene.
HOW IS CYSTINOSIS TREATED?
Paediatricians treat Cystinosis based on the symptoms that are observed. Treating the renal tubular dysfunction requires a high intake of electrolytes and fluids to compensate for water loss from the body. Sodium salts may be given to maintaining electrolyte balance in the body. Treatment with Cysteamine is an approved method for Cystinosis. This treatment method is useful in promoting growth in children affected with Cystinosis
DID YOU KNOW?
Cystine accumulates primarily in the cornea of eyes