Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives

Francesco Emma, Giovanni Montini, Marco Pennesi, Licia Peruzzi, Enrico Verrina, Bianca Maria Goffredo, Fabrizio Canalini, David Cassiman, Silvia Rossi, Elena Levtchenko

Research output: Contribution to journalReview articlepeer-review


Early diagnosis and effective therapy are essential for improving the overall prognosis and quality of life of patients with nephropathic cystinosis. The severity of kidney dysfunction and the multi-organ involvement as a consequence of the increased intracellular concentration of cystine highlight the necessity of accurate monitoring of intracellular cystine to guarantee effective treatment of the disease. Cystine depletion is the only available treatment, which should begin immediately after diagnosis, and not discontinued, to significantly slow progression of renal and extra-renal organ damage. This review aims to discuss the importance of the close monitoring of intracellular cystine concentration to optimize cystine depletion therapy. In addition, the role of new biomarkers in the management of the disease, from timely diagnosis to implementing treatment during follow-up, is overviewed.

Original languageEnglish
Article number1839
Issue number11
Publication statusPublished - Jun 1 2022


  • biomarkers
  • cysteamine
  • cystine
  • kidney
  • nephropathic cystinosis
  • therapeutic monitoring

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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