Progress on the pathogenesis of neurofibromatosis type 1
10.3760/cma.j.issn.1673-4408.2024.01.005
- VernacularTitle:1型神经纤维瘤病发病机制的研究进展
- Author:
Yizhen GUO
1
;
Fang YUAN
;
Yucai CHEN
Author Information
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
- Keywords:
Neurofibromatosis type 1;
Pathogenesis;
Neurofibromin;
Treatment
- From:
International Journal of Pediatrics
2024;51(1):23-28
- CountryChina
- Language:Chinese
-
Abstract:
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 café au 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.
