生物素-硫胺素反应性基底节病研究进展

Advances in biotin-thiamine-responsive basal ganglia disease

生物素-硫胺素反应性基底节病(biotin-thiamine-responsive basal ganglia disease,BTRBGD)是由于编码人类硫胺素转运蛋白2的SLC19A3基因突变造成的先天性维生素B1(硫胺素)代谢障碍性疾病。自1998年首次报道,病例主要为沙特人,其他种族也有个案报告,尚没有中国人发病的报告。临床以儿童期起病的亚急性或急性脑病为特征,影像学表现对称性的尾状核及壳核病变。早期予生物素和/或硫胺素治疗有效。BTRBGD作为一种可治疗的代谢性疾病,在当前的诊断不足。医生发现在儿童期急性或亚急性起病的不明原因脑病伴有双侧尾状核及壳核病变应该考虑该病,在基因诊断之前的病程早期就应该给予生物素及硫胺素治疗。

Biotin-thiamine-responsive basal ganglia disease（BTRBGD） is a congenital metabolic disorder of vitamin B1（thiamine）caused by mutations in the SLC19 A3 gene, encoding the human thiamine transporter 2. The disease was first reported since 1998. It occurred mainly in Saudi and also in other ethnic groups but there have been no reported cases in China. BTRBGD is characterized by childhood onset with subacute or acute encephalopathy and symmetrical lesions of caudate nucleus and putamen in neuroimaging. Early administration of biotin and/or thiamin is effective. As a treatable metabolic disease, BTRBGD is underdiagnosed at present. Clinicians should consider this disorder in the children with unexplained acute or subacute encephalopathy and symmetric lesions in bilateral putamen and caudate nucleus in neuroimaging. A therapeutic trial with biotin and thiamine should be supplied early in the hospital course prior to genetic diagnosis.