Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.
Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan; Department of Child Development, United Graduate School of Child Development, Osaka University, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan.
J Neurol Sci. 2023 Apr 15;447:120597. doi: 10.1016/j.jns.2023.120597. Epub 2023 Mar 2.
In glucose transporter 1 deficiency syndrome (Glut1DS), cerebrospinal fluid glucose (CSFG) and CSFG to blood glucose ratio (CBGR) show significant differences among groups classified by phenotype or genotype. The purpose of this study was to investigate the association between these biochemical parameters and Glut1DS severity.
The medical records of 45 patients who visited Osaka University Hospital between March 2004 and December 2021 were retrospectively examined. Neurological status was determined using the developmental quotient (DQ), assessed using the Kyoto Scale of Psychological Development 2001, and the Scale for the Assessment and Rating of Ataxia (SARA). CSF parameters included CSFG, CBGR, and CSF lactate (CSFL).
CSF was collected from 41 patients, and DQ and SARA were assessed in 24 and 27 patients, respectively. Simple regression analysis showed moderate associations between neurological status and biochemical parameters. CSFG resulted in a higher R than CBGR in these analyses. CSF parameters acquired during the first year of life were not comparable to those acquired later. CSFL was measured in 16 patients (DQ and SARA in 11 and 14 patients, respectively). Although simple regression analysis also showed moderate associations between neurological status and CSFG and CSFL, the multiple regression analysis for DQ and SARA resulted in strong associations through the use of a combination of CSFG and CSFL as explanatory variables.
The severity of Glut1DS can be predicted from CSF parameters. Glucose and lactate are independent contributors to the developmental and neurological status in Glut1DS.
在葡萄糖转运蛋白 1 缺乏综合征（Glut1DS）中，根据表型或基因型分类的各组之间，脑脊液葡萄糖（CSFG）和 CSFG 与血糖比值（CBGR）存在显著差异。本研究旨在探讨这些生化参数与 Glut1DS 严重程度之间的关系。
回顾性分析了 2004 年 3 月至 2021 年 12 月期间在大阪大学医院就诊的 45 名患者的病历。神经状态通过使用京都心理发育量表 2001 评估的发育商数（DQ）和评估共济失调的量表（SARA）来确定。CSF 参数包括 CSFG、CBGR 和 CSF 乳酸（CSFL）。
从 41 名患者中收集了 CSF，分别对 24 名和 27 名患者进行了 DQ 和 SARA 评估。简单回归分析显示，神经状态与生化参数之间存在中度关联。在这些分析中，CSFG 的 R 值高于 CBGR。在生命的第一年获得的 CSF 参数与以后获得的参数不可比。在 16 名患者中测量了 CSFL（DQ 和 SARA 分别在 11 名和 14 名患者中进行）。尽管简单回归分析也显示了神经状态与 CSFG 和 CSFL 之间的中度关联，但通过使用 CSFG 和 CSFL 作为解释变量的组合进行的 DQ 和 SARA 多元回归分析得出了强烈的关联。
可以从 CSF 参数预测 Glut1DS 的严重程度。葡萄糖和乳酸是 Glut1DS 发育和神经状态的独立贡献者。
