成人型II型糖原贮积病的诊断方案。
A diagnostic protocol for adult-onset glycogen storage disease type II.
作者信息
Ausems M G, Lochman P, van Diggelen O P, Ploos van Amstel H K, Reuser A J, Wokke J H
机构信息
Center for Medical Genetics, University Hospital Utrecht, The Netherlands.
出版信息
Neurology. 1999 Mar 10;52(4):851-3. doi: 10.1212/wnl.52.4.851.
To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II (GSD II), we performed a clinical, biochemical, and genetic study of 18 patients with this disease. Measurement of acid alpha-glucosidase (GAA) activity in muscle and histopathologic analysis of muscle tissue appeared to have no additional value when GAA activity in leukocytes was clearly deficient. Our study showed that creatine kinase elevation is a sensitive marker of GSD II. A diagnostic protocol is formulated.
为分析各种实验室检查对确诊成人型Ⅱ型糖原贮积病（GSDⅡ）的诊断价值，我们对18例该疾病患者进行了临床、生化及遗传学研究。当白细胞中的酸性α-葡萄糖苷酶（GAA）活性明显缺乏时，肌肉中GAA活性的测定和肌肉组织的组织病理学分析似乎并无额外价值。我们的研究表明，肌酸激酶升高是GSDⅡ的一个敏感标志物。据此制定了一个诊断方案。
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