葡萄糖转运体1缺陷综合征的诊断与治疗专家共识

Expert consensus on clinical diagnosis and treatment of glucose transporter type 1 deficiency syndrome

葡萄糖转运体1缺陷综合征(GLUT1-DS)自1991年由de Vivo等首次描述以来,国内外报道的病例数逐渐增多。GLUT1-DS的临床表现多种多样,严重程度不一,且常随年龄的增长而发生变化。尽早应用生酮饮食治疗可明显改善其预后。本病临床罕见,容易被误诊或漏诊,可导致其有效的治疗延迟,给患者造成不可逆的损害。现参考最新的临床研究证据和国际相关专家共识,并密切结合我国实际情况,讨论并提出中国专家共识,以进一步提高临床医师对本病的认识水平,促进其早期诊断及有效的精准治疗,改善预后。

Since the glucose transporter 1 deficiency syndrome(GLUT1-DS)was first described in 1991 by de Vivo etc,the number of cases reported in China and globally has been increasing gradually.The clinical manifestations of GLUT1-DS are diverse,with varying degrees of severity,and often change with age.Early application of ketogenic diet therapy can significantly improve the prognosis.As a rare disease of the nervous system,this syndrome is easy to be misdiagnosed or missed,which may lead to the delay of effective treatment and irreversible damage.Therefore,based on the latest clinical research evidence and relevant expert consensus published abroad,Ketogenic Diet Committee of China Association Against Epilepsy drafted the expert consensus on clinical diagnosis and treatment of GLUT1-DS.It is expected that this expert consensus can further improve clinicians′understanding of the disease,promote the early accurate diagnosis and effective treatment,and improve the prognosis of GLUT1-DS in China.