Center for Medical Biochemistry, Clinical Center of Serbia, Belgrade, Serbia.
Clin Biochem. 2011 Aug;44(12):950-4. doi: 10.1016/j.clinbiochem.2011.05.016. Epub 2011 May 25.
The aim of the study was to evaluate the efficiency of the biomarkers chitotriosidase (Chito), total acid phosphatase (TACP), angiotensin converting enzyme (ACE) and ferritin in the diagnosis of Gaucher disease (GD) and to assess the utility of biomarkers for monitoring the effects of enzyme replacement therapy (ERT).
Forty treatment-naive Gaucher patients were studied. 27/40 GP were put on ERT and monitored every 6 months.
The baseline median values of Chito, TACP, ACE and ferritin were highly elevated in GP: 10216 nmol/mL/h, 26.1 U/L, 253 U/L, 515 μg/L, and 555 μg/L, respectively. The only significant difference between mild and moderate GP subgroups is observed for Chito activity (p=0.0116). During ERT, Chito showed the steepest decrease in regard to TACP and ACE, mainly within the first year (71.4%).
Among these biomarkers, Chito proved to be the most useful biomarker for diagnosing GD and monitoring the ERT.
本研究旨在评估几丁质酶（Chito）、总酸性磷酸酶（TACP）、血管紧张素转换酶（ACE）和铁蛋白这四种生物标志物在戈谢病（GD）诊断中的效率，并评估这些生物标志物在监测酶替代疗法（ERT）效果中的应用价值。
共纳入 40 例未经治疗的 GD 患者。其中 27 例接受 ERT 治疗，并每 6 个月监测一次。
初诊患者的 Chito、TACP、ACE 和铁蛋白基线中位值显著升高，分别为 10216 nmol/mL/h、26.1 U/L、253 U/L、515 μg/L 和 555 μg/L。仅在 Chito 活性方面，轻度和中度 GP 亚组间存在显著差异（p=0.0116）。在 ERT 期间，Chito 相对于 TACP 和 ACE 下降最显著，主要发生在第一年（71.4%）。
在这些生物标志物中，Chito 被证明是诊断 GD 和监测 ERT 最有用的生物标志物。
