Cystinosis

Cystinosis is an inherited disease characterized by a type of kidney disease called renal tubular Fanconi syndrome, poor growth, and photophobia (sensitivity to light in the eyes). It involves abnormalities in the protein cystinosin, which moves the amino acid cystine within cells. Symptoms associated with cystinosis are due to a build-up of cystine, which forms crystals within cells throughout the body, resulting in tissue damage. Cystinosis is also known as cystine storage disease. View testing options