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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?
A diagnosis of Cystinosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The tests include:
• Blood test
• Urine test
• Microscopic test is done by an Ophthalmologist
• Molecular genetic testing
• Prenatal tests
HOW IS CYSTINOSIS TREATED?
The treatment is usually based on the symptoms and containing the same. Fluids and electrolytes will have to be prescribed to the patient along with phosphates and vitamin D, which can correct any impairment and prevent the onset of rickets.
DID YOU KNOW?
If this problem is not diagnosed and treated properly by the age of 9, it could result to kidney failure and prove to be fatal.