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?
Diagnosis of the same can be done by a general physician. There are specific genetic tests conducted for this and doctors may also take samples of tissues or do screenings.
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?
Infantile nephropathic Cystinosis is the most severe form of the disease