Gornati R, Bembi B, Tong X, Boscolo R, Berra B
Institute of General Physiology and Biochemistry, School of Pharmacy, University of Milan, Milano, Italy.
Clin Chim Acta. 1998 Mar 23;271(2):151-61. doi: 10.1016/s0009-8981(97)00241-6.
The follow-up of Gaucher's patients under enzyme replacement therapy is generally based both on the clinical aspects and the evaluation of haematological parameters: haemoglobin level, platelet count, acid and alkaline phosphatase activities. Spleen and liver volumes are also reliable criteria for evaluating the improvement of the patients. The determination of glycolipid excretion in the urine and/or the quantification of glycolipids in serum can also be a useful tool for the screening and the follow up of patients with lysosomal storage disease including Gaucher's disease. In this paper we report the follow-up of three patients with Gaucher type 3; in order to test the efficacy of the enzyme replacement therapy with alglucerase in these patients, we evaluated the urine and plasma glucosylceramide content as a marker parallel to the clinical improvement and the decreased organomegaly.
血红蛋白水平、血小板计数、酸性和碱性磷酸酶活性。脾脏和肝脏体积也是评估患者病情改善情况的可靠标准。测定尿中糖脂排泄量和/或血清中糖脂定量，也可作为筛查和随访包括戈谢病在内的溶酶体贮积病患者的有用工具。在本文中，我们报告了3例3型戈谢病患者的随访情况；为检测阿糖苷酶进行酶替代疗法对这些患者的疗效，我们评估了尿和血浆中葡萄糖脑苷脂含量，将其作为与临床改善和器官肿大减轻并行的指标。
