{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T07:03:09Z","timestamp":1788850989563,"version":"build-2803163510"},"reference-count":70,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T00:00:00Z","timestamp":1654300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/cells11111839","type":"journal-article","created":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T09:42:32Z","timestamp":1654335752000},"page":"1839","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0383-3468","authenticated-orcid":false,"given":"Francesco","family":"Emma","sequence":"first","affiliation":[{"name":"Department of Pediatric Subspecialties, Division of Nephrology, Bambino Ges\u00f9 Children\u2019s Hospital-IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7350-4475","authenticated-orcid":false,"given":"Giovanni","family":"Montini","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione Ca\u2019 Grande IRRCS Ospedale Maggiore Policlinico, 20122 Milan, Italy"},{"name":"Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Pennesi","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health, IRCCS Burlo Garofolo, 34137 Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5704-3867","authenticated-orcid":false,"given":"Licia","family":"Peruzzi","sequence":"additional","affiliation":[{"name":"Pediatric Nephrology Unit, Regina Margherita Children\u2019s Hospital, AOU Citt\u00e0 della Salute e della Scienza di Torino, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Verrina","sequence":"additional","affiliation":[{"name":"Dialysis Unit, Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca Maria","family":"Goffredo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Subspecialties, Division of Metabolic Diseases, Bambino Ges\u00f9 Children\u2019s Hospital-IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Canalini","sequence":"additional","affiliation":[{"name":"Medical Department, Chiesi Pharmaceutics, 43100 Parma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[{"name":"Department of Metabolic Diseases, University Hospitals Leuven, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Rossi","sequence":"additional","affiliation":[{"name":"Medical Department, Chiesi Pharmaceutics, 43100 Parma, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8352-7312","authenticated-orcid":false,"given":"Elena","family":"Levtchenko","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Development and Regeneration, University Hospitals Leuven, University of Leuven, 3000 Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/mgme.1999.2876","article-title":"Mutations of CTNS causing intermediate cystinosis","volume":"67","author":"Thoene","year":"1999","journal-title":"Mol. 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