The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.

  title={The pathogenesis of cystinosis: mechanisms beyond cystine accumulation.},
  author={Martijn J Wilmer and Francesco Emma and Elena Levtchenko},
  journal={American journal of physiology. Renal physiology},
  volume={299 5},
Renal proximal tubules are highly sensitive to ischemic and toxic insults and are affected in diverse genetic disorders, of which nephropathic cystinosis is the most common. The disease is caused by mutations in the CTNS gene, encoding the lysosomal cystine transporter cystinosin, and is characterized by accumulation of cystine in the lysosomes throughout the body. In the majority of the patients, this leads to generalized proximal tubular dysfunction (also called DeToni-Debré-Fanconi syndrome… CONTINUE READING
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