Cystinosis Medical Assignment Help

In cystinosis, cystine accumulates in the reticuloendothelial cells. It is inherited in an autosomal recessive manner. The exact mechanism is unknown but it is thought to be a defect of cystine transport across the lysosomal membrane. Three forms are recognized: the infantile form is usually fatal in the first year owing to renal failure; the intermediate form presents in early/young adult life with fever and renal problems; and the adult form is benign. The generalized aminoaciduria seen in these patients often causes confusion with the Fanconi syndrome. Corneal deposits of cystine are seen.

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