国际神经病学神经外科学杂志2024，Vol.51Issue(2)：1-6,6.DOI:10.16636/j.cnki.jinn.1673-2642.2024.02.001
Krabbe病诊疗中国专家共识
Chinese expert consensus on the diagnosis and treatment of Krabbe disease
摘要
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.关键词
Krabbe病/诊断/治疗/共识Key words
Krabbe disease/diagnosis/treatment/consensus分类
医药卫生引用本文复制引用
《Krabbe病诊疗中国专家共识》制订组,肖波..Krabbe病诊疗中国专家共识[J].国际神经病学神经外科学杂志,2024,51(2):1-6,6.基金项目
国家重点研发计划(2021YFC1005300). （2021YFC1005300）
