脑脊液糖鞘脂在溶酶体贮积症诊断及治疗监测中的潜在应用。

Possible use of CSF glycosphingolipids for the diagnosis and therapeutic monitoring of lysosomal storage diseases.

作者信息

Kaye E M, Ullman M D, Kolodny E H, Krivit W, Rischert J C

机构信息

Division of Pediatric Neurology, Floating Hospital for Infants and Children, Tufts University School of Medicine, Boston, 02111.

出版信息

Neurology. 1992 Dec;42(12):2290-4. doi: 10.1212/wnl.42.12.2290.

DOI:10.1212/wnl.42.12.2290

PMID:1461381

Abstract

We used a high-performance liquid chromatography method to measure CSF gangliosides, neutral glycolipids, and sulfatides in patients with lysosomal storage disorders. These measurements could be done on less than 1 milliliter of CSF. In patients with GM1 gangliosidosis, GM1 ganglioside was increased, and in GM2 gangliosidosis patients, GM2 ganglioside was increased in CSF. Sulfatides were variably increased in CSF early in the course of the disease and appeared to be a means of monitoring patients, following bone marrow transplantation. Fabry's disease patients showed an increase in globotriaosylceramide, but Krabbe's disease patients did not demonstrate an increase in galactosylceramide. This study suggests that CSF glycosphingolipid measurements may prove helpful in the diagnosis and monitoring of lysosomal storage diseases.

摘要

我们采用高效液相色谱法测量溶酶体贮积症患者脑脊液中的神经节苷脂、中性糖脂和硫脂。这些测量可在少于1毫升的脑脊液上进行。在GM1神经节苷脂病患者中，脑脊液中GM1神经节苷脂增加；在GM2神经节苷脂病患者中，脑脊液中GM2神经节苷脂增加。硫脂在疾病早期脑脊液中可变地增加，并且似乎是监测骨髓移植后患者的一种手段。法布里病患者的球三糖神经酰胺增加，但克拉伯病患者的半乳糖神经酰胺未显示增加。这项研究表明，脑脊液糖鞘脂测量可能有助于溶酶体贮积病的诊断和监测。