Abstract
Cystinosis is a multi systemic autosomal recessive lysosomal disease resulting from intracellular accumulation of cystine. The classic pediatric form is characterized by a proximal tubulopathy and corneal cystine crystals, This is the most common cause of Fanconi syndrome in children. Without treatment, cystinosis can also lead to progressive renal damage, blindness, hypothyroidism, diabetes and rickets.
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