TY - JOUR
T1 - Biomarkers in Nephropathic Cystinosis
T2 - Current and Future Perspectives
AU - Emma, Francesco
AU - Montini, Giovanni
AU - Pennesi, Marco
AU - Peruzzi, Licia
AU - Verrina, Enrico
AU - Goffredo, Bianca Maria
AU - Canalini, Fabrizio
AU - Cassiman, David
AU - Rossi, Silvia
AU - Levtchenko, Elena
N1 - Funding Information:
Editorial assistance was provided by Irene Sebastianutto, and Barbara Bartolini, on behalf of Health Publishing and Services srl. Medical writing and editorial assistance were funded by Chiesi Italia S.p.A. The Special Issue of Cells is financially supported by Cystinosis Research Ireland, Cystinosis Foundation UK, Cystinosis Research Network and Cystinosis Network Europe. E.L. is supported by the Fund Scientific Research Flanders (F.W.O Vlaanderen), grant 1801110N, the Cystinosis Research Network and Cystinosis Ireland. F.E. is supported by the Cystinosis Research Foundation. F.E., E.L., G.M., L.P., E.V. acknowledge European Reference Kidney Network (ERKNet).
Publisher Copyright:
© 2022 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2022/6/1
Y1 - 2022/6/1
N2 - 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.
AB - 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.
KW - biomarkers
KW - cysteamine
KW - cystine
KW - kidney
KW - nephropathic cystinosis
KW - therapeutic monitoring
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U2 - 10.3390/cells11111839
DO - 10.3390/cells11111839
M3 - Review article
C2 - 35681534
AN - SCOPUS:85131164582
SN - 2073-4409
VL - 11
JO - Cells
JF - Cells
IS - 11
M1 - 1839
ER -