1型神经纤维瘤病发病机制的研究进展  

Progress on the pathogenesis of neurofibromatosis type 1

作　　者：郭艺桢 袁芳 陈育才 Guo Yizhen;Yuan Fang;Chen Yucai(Department of Neurology,Shanghai Children’s Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai 200062,China)

机构地区：[1]上海交通大学医学院附属儿童医院、上海市儿童医院神经内科,200062

出　　处：《国际儿科学杂志》2024年第1期23-28,共6页International Journal of Pediatrics

基　　金：中国抗癫痫协会科研基金(CJ-A-2021-07, CX-2022-013, CU-2023-036)。

摘　　要：1型神经纤维瘤病(neurofibromatosis type 1,NF1)是常见的常染色体显性遗传病之一。该疾病由NF1基因突变所引起,可累及多个系统,具有多种临床表现,包括牛奶咖啡斑、虹膜结节、神经胶质瘤、孤独症谱系障碍、学习困难、神经纤维瘤和骨骼发育不良等。既往在NF1发病机制的研究中,多聚焦在神经纤维蛋白调控RAS信号通路。近年来,研究者开始探索除RAS信号之外的通路,挖掘神经纤维蛋白潜在功能。该文就近年来对NF1发病机制的研究进展进行综述,旨在为治疗提供新思路。Neurofibromatosis type 1(NF1)is one of the most common autosomal dominant disorders.The disease is caused by mutations in the NF1 gene,which can involve multiple systems and have a variety of clinical manifestations,including caféau lait macules,lisch nodules,neuroglioma,autism spectrum disorder,learning difficulties,neurofibromas,and skeletal dysplasia,et al.In previous studies on the pathogenesis of NF1,most of them have focused on the regulation of the RAS signaling pathway by neurofibromin.In recent years,researchers start exploring pathways other than RAS signaling to explore the potential functions of neurofibromin.This article reviews the research progress on the pathogenesis of NF1 in recent years,aiming to provide new ideas for treatment.

关 键 词：1型神经纤维瘤病 发病机制 神经纤维蛋白 治疗 

分 类 号：R739.4[医药卫生—肿瘤]