This is a rare genetic disorder that usually afflicts children below the age of years. It basically causes the formation of Cystine crystals in the kidneys, liver, brain and other organs of the body. There are myriad symptoms and complications in this condition including muscle wasting, diabetes and hypothyroidism.
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?
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?
This condition can also cause failure of the kidneys.