Krabbe病诊疗中国专家共识

Chinese expert consensus on the diagnosis and treatment of Krabbe disease

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.