Nephropathic cystinosis is a lethal autosomal recessive lysosomal storage disease that destroys kidney function by ten years of age. It results from failure to transport cystine from lysosomes, leading to large accumulations of cystine within the lysosomes of almost all tissues. How the failure of function of cystinosin and the attendant lysosomal cystine accumulation effects the severe phenotype is now being investigated on several fronts, chief among which is the increase in the rate of apoptosis observed in cultured cells and renal tissue whose lysosomes are cystine-laden.
Keywords: Cystinosis, lysosomes, apoptosis, PKC delta, atubular glomeruli, lethal, kidneys, Nephropathic, storage disorder, fibroblasts
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