Plasma chitotriosidase enzyme activity as a novel therapeutic monitor for cysteamine treatment in nephropathic cystinosis: A retrospective validation study.

Autor: Veys K; Department of Pediatrics, University Hospitals Leuven, campus Gasthuisberg, Leuven, Belgium; Department of Development & Regeneration, Laboratory of Pediatric Nephrology, KU Leuven, campus Gasthuisberg, Leuven, Belgium., Elmonem MA; Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo 11628, Egypt., van den Heuvel L; Department of Development & Regeneration, Laboratory of Pediatric Nephrology, KU Leuven, campus Gasthuisberg, Leuven, Belgium., Gahl WA; National Genome Research Institute (NHGRI), National Institutes of Health, Medical Genetics Branch, 9000 Rockville Pike, Bethesda, MD 20892, United States., Levtchenko E; Department of Pediatric Nephrology, Emma Children's Hospital, Amsterdam University Medical Centers, 1105, AZ, Amsterdam, the Netherlands. Electronic address: e.n.levtchenko@amsterdamumc.nl.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108454. Date of Electronic Publication: 2024 Mar 21.
DOI: 10.1016/j.ymgme.2024.108454
Abstrakt: Background: Cystine-depleting therapy in nephropathic cystinosis is currently monitored via the white blood cell cystine assay, although its application and usefulness are limited by practical and technical issues. Therefore, alternative biomarkers that are widely available, more economical and less technically demanding, while reliably reflecting long-term adherence to cysteamine treatment, are desirable. Recently, we proposed chitotriosidase enzyme activity as a potential novel biomarker for the therapeutic monitoring of cysteamine treatment in cystinosis. In this study, we aimed to validate our previous findings and to confirm the value of chitotriosidase in the management of cystinosis therapy.
Materials & Methods: A retrospective study was conducted on 12 patients treated at the National Institutes of Health Clinical Center and followed up for at least 2 years. Plasma chitotriosidase enzyme activity was correlated with corresponding clinical and biochemical data.
Results: Plasma chitotriosidase enzyme activity significantly correlated with WBC cystine levels, cysteamine total daily dosage and a Composite compliance score. Moreover, plasma chitotriosidase was a significant independent predictor for WBC cystine levels, and cut-off values were established in both non-kidney transplanted and kidney transplanted cystinosis patients to distinguish patients with a good versus poor compliance with cysteamine treatment. Our observations are consistent with those of our previous study and validate our findings.
Conclusions: Chitotriosidase enzyme activity is a valid potential alternative biomarker for monitoring cysteamine treatment in nephropathic cystinosis patients.
Synopsis: Chitotriosidase enzyme activity is a valid potential alternative biomarker for monitoring cysteamine treatment in nephropathic cystinosis patients.
Competing Interests: Declaration of competing interest E.L. performs consultancy for Recordati, Chiesi, Kyowa Kirin, Advicenne, and was supported by a research grant from Horizon Pharma.
(Copyright © 2024. Published by Elsevier Inc.)
Databáze: MEDLINE
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