Warning Signs And Complications Of Cystinosis

Cystinosis is a rare genetic disorder affecting multiple systems throughout the body. Patients with this condition accumulate cystine, an amino acid, throughout tissues and organ systems like the brain, pancreas, liver, muscles, eyes, and kidneys. Cystinosis comes in three categories: nephropathic, intermediate, and non-nephropathic. Symptom severity and age of onset vary wildly. It's essential for cystinosis to be detected and treated before irreversible damage is done to the organs. Though it is a progressive disorder with no known cure, advancements in medical technology have increased the average patient's lifespan to more than fifty years. The disease occurs because the patient's body does not have the necessary transporter to remove cystine.

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Pale And Thin

Cystinosis patients often appear abnormally pale and thin. With the infantile form of the disease, children tend to show no symptoms for the first nine to ten months of their life. By the time they reach one-year-old, symptoms like excessive urination and thirst occur. Children experience delayed growth and have unusually short stature. The reason children appear so thin and pale is because of the insidious damage to their internal organs. They will develop rickets due to the loss of phosphorous through their urine. Infantile cystinosis is the most common type of cystinosis. Unusual paleness and thinness can be a sign a child has an underlying medical problem, especially when paired with unusual growth development. Cystinosis is a rare disease, while paleness and thinness can indicate hundreds of different problems. But regardless of the cause, a child should not be abnormally thin and pale if they're being fed a healthy diet

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