Your doctor will inform you of your condition or diagnosis. You or your child may have what’s called nephropathic cystinosis (which means cystinosis that involves the kidneys). Nephropathic cystinosis is typically noticed by doctors very early in a patient’s life.
The most commonly reported type of nephropathic cystinosis shows up in infancy. Infants and children with nephropathic cystinosis will show a specific set of symptoms (see below). Doctors can diagnose nephropathic cystinosis by measuring the amount of cystine in the blood.
Non-nephropathic cystinosis (also called ocular cystinosis) is usually diagnosed much later in life when corneal cystine crystals are detected in an eye exam.