Infantile Cytinosis Disease: A Young Cousin

My young cousin who is eight years old was born with Infantile (nephropathic) Cytinosis disease. Infantile Cytosis disease damages various organs including the kidneys, liver muscles, white blood cells, and central nervous system. The cystine crystallizes in cells throughout the body slowly destroying the organs. The earliest abnormalities are seen in the kidney. Cytinosis is a common cause of the Fanconi syndrome, a renal tubular disease. By the age of one years old patients have very large amounts of urine and lose large amounts of salt and other minerals in their urine. Lysosomes are affected by this disease. After my cousin turned one he had cystine crystals appear in the cornea of his eyes, this caused a severe sensitivity to light. (photophobia)