Department of Pediatrics, University Hospitals Leuven, campus Gasthuisberg, Leuven, Belgium; Department of Development & Regeneration, Laboratory of Pediatric Nephrology, KU Leuven, campus Gasthuisberg, Leuven, Belgium.
Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo 11628, Egypt.
Mol Genet Metab. 2024 May;142(1):108454. doi: 10.1016/j.ymgme.2024.108454. Epub 2024 Mar 21.
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.
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.
Chitotriosidase enzyme activity is a valid potential alternative biomarker for monitoring cysteamine treatment in nephropathic cystinosis patients.
Chitotriosidase enzyme activity is a valid potential alternative biomarker for monitoring cysteamine treatment in nephropathic cystinosis patients.
在肾源性胱氨酸贮积症中，胱氨酸耗竭疗法目前通过白细胞胱氨酸测定进行监测，但其应用和实用性受到实际和技术问题的限制。因此，需要寻找其他替代标志物，这些标志物广泛可用、更经济且技术要求更低，同时能可靠反映长期胱氨酸治疗的依从性。最近，我们提出了壳三糖苷酶酶活性作为胱氨酸治疗治疗监测的潜在新型生物标志物。在这项研究中，我们旨在验证我们之前的发现，并确认壳三糖苷酶在胱氨酸病治疗管理中的价值。
对在国立卫生研究院临床中心接受治疗并至少随访 2 年的 12 名患者进行了回顾性研究。将血浆壳三糖苷酶酶活性与相应的临床和生化数据相关联。
血浆壳三糖苷酶酶活性与白细胞胱氨酸水平、胱氨酸总日剂量和综合依从性评分显著相关。此外，血浆壳三糖苷酶是白细胞胱氨酸水平的显著独立预测因子，并为非肾移植和肾移植胱氨酸病患者建立了临界值，以区分胱氨酸治疗依从性良好和较差的患者。我们的观察结果与我们之前的研究一致，验证了我们的发现。
壳三糖苷酶酶活性是监测肾源性胱氨酸贮积症患者胱氨酸治疗的有效潜在替代生物标志物。
