Krabbe病诊疗中国专家共识
作者:
作者单位:

作者简介:

通信作者:

肖波,中南大学湘雅医院神经内科,教授,博士生导师。Email:xiaobo_xy@126.com。

基金项目:

国家重点研发计划(2021YFC1005300)。


Chinese expert consensus on the diagnosis and treatment of Krabbe disease
Author:
Affiliation:

Fund Project:

  • 摘要
  • |
  • 图/表
  • |
  • 访问统计
  • |
  • 参考文献
  • |
  • 相似文献
  • |
  • 引证文献
  • |
  • 资源附件
  • |
  • 音频文件
  • |
  • 视频文件
    摘要:

    Krabbe病(KD)是一种罕见的常染色体隐性遗传性溶酶体贮积病,其病因为半乳糖脑苷脂酶的功能不足,导致半乳糖基鞘氨醇等有毒代谢产物在中枢和周围神经系统中积聚,引起神经脱髓鞘病变。KD在不同年龄段的发病特征和临床表现不同,其中婴儿型起病年龄早,病情进展快,常导致早期死亡。成人型表现出极大异质性,易于漏诊和误诊,给临床管理带来巨大挑战。为协助临床医生在KD的诊断和治疗中做出合理的决策,综合考虑国内外相关研究和指南,制定了适合我国具体情况的KD诊疗中国专家共识,旨在提高我国对KD的诊疗水平。

    Abstract:

    Krabbe disease (KD) is a rare autosomal recessive hereditary lysosomal storage disorder caused by galactocerebrosidase deficiency, which leads to the accumulation of the toxic metabolites galactosylsphingosine within the central and peripheral nervous systems, thereby resulting in demyelinating lesions. KD has different onset features and clinical manifestations in different age groups, and the infantile form of KD often has an early age of onset and progresses rapidly, leading to early mortality, while the adult form exhibits significant heterogeneity, which often leads to missed diagnosis and misdiagnosis, bringing great challenges to clinical management. In order to assist clinicians in making informed decisions in the diagnosis and treatment of KD, the Chinese expert consensus on the diagnosis and treatment of KD was developed in detailed based on related studies and guidelines in China and globally, so as to improve the diagnosis and treatment of KD in China.

    Fig.
    Fig.
    参考文献
    相似文献
    引证文献
引用本文

456. Krabbe病诊疗中国专家共识[J].国际神经病学神经外科学杂志,2024,(2):1-6111222. Chinese expert consensus on the diagnosis and treatment of Krabbe disease[J]. Journal of International Neurology and Neurosurgery,2024,(2):1-6

复制
分享
文章指标
  • 点击次数:
  • 下载次数:
历史
  • 收稿日期:2024-02-06
  • 最后修改日期:2024-04-11
  • 录用日期:
  • 在线发布日期: 2024-06-19
关闭
关于有作者收到“抽查数据”邮件的再次申明

关闭