Cystinosis

Cystinosis is a rare genetic disorder where the body cannot properly break down and remove a substance called cystine, which forms crystals that accumulate in cells. These crystals mainly build up in the kidneys, eyes, muscles, and other organs, leading to organ damage over time. Symptoms can include kidney problems, growth delays, and eye issues. It’s caused by mutations in a gene responsible for transporting cystine out of cells. Treatment typically involves medication to reduce cystine buildup, helping to slow disease progression and preserve organ function. Early diagnosis and management are important for improving quality of life.