Cystinosis is a rare autosomal recessive disease. The disease is characterized by elevated levels of intracellular cystine due to a defect in the lysosomal cystine transporter. Accumulation of cystine results in multiple organ damage with renal damage being the most pronounced in the first decade of life. Individuals with cystinosis experience both tubular dysfunction (renal Fanconi Syndrome) and glomerular deterioration. The renal Fanconi Syndrome usually occurs within the first year of life. Glomerular deterioration progresses throughout the first decade of life resulting in end-stage renal failure. Symptoms include polyuria and polydipsia, urinary losses (including electrolytes, glucose, phosphate, and amino acids), retarded growth and poor appetite.

Treatment consists of treatment for RTA and cysteamine bitartrate