What is Cystinosis?
What is Cystinosis?
Cystinosis is a rare, inherited metabolic disorder that affects every cell in the body. It is estimated that approximately 500 people in the United States and 2,000 people worldwide are currently living with this condition. Cystinosis has historically been associated with blond-haired, blue-eyed children of European descent; however, it can affect individuals of all races and ethnic backgrounds.
How Cystinosis Affects the Body- Kidneys
Cystinosis is a metabolic condition, meaning the body cannot properly convert food into energy. In individuals with cystinosis, an imbalance of electrolytes—such as bicarbonate—disrupts normal metabolic function. Although the disease impacts the entire body, the kidneys and eyes are typically affected first.
Cystinosis is the leading cause of Fanconi syndrome, a kidney disorder in which essential nutrients and minerals are lost in the urine and must be continually replaced. Prior to the development of cystine-depleting medications, cystinosis often progressed to kidney failure by early childhood—usually by the age of five. Today, when treatment begins early and is taken consistently, disease progression may be delayed, though not completely prevented.
HOW CYSTINOSIS AFFECTS THE BODY- eyes
In the eyes, cystine crystals accumulate on the cornea, causing extreme sensitivity to light. Bright sunlight can be painful, often requiring individuals to wear sunglasses outdoors—and sometimes indoors. If left untreated, these crystals may lead to corneal erosion and long-term eye damage.
Beyond the kidneys and eyes, cystine crystals can accumulate in other organs and tissues, including the liver, spleen, lymph nodes, thyroid, intestines, muscles, brain, and bone marrow. Ongoing, lifelong treatment is required to continuously lower cystine levels and help prevent irreversible organ damage. Regular monitoring of white blood cell cystine levels is essential to assess treatment effectiveness.