Abstract
Nephropatic cystinosis (NC; McKusick 219800) is caused by impaired cystine transport across the lysosomal membrane, resulting in renal tubular Fanconi syndrome and later evolving to chronic renal failure. To prevent the progression to renal failure, treatment with cysteamine is currently used for lowering parenchymal cystine storage. Cysteamine reacts in lysosomes with cystine, producing a mixed disulphide (cysteamine-cysteine mixed disulphide) and cysteine that enter the cytosol through specific carriers. We evaluated urinary organic acids excretion in three NC patients, before and during cysteamine therapy.
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