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. 2023 Aug 2;61(8):757-760.
doi: 10.3760/cma.j.cn112140-20230227-00136.

[Research progress on pathogenesis and treatment of neurofibromatosis type 1]

[Article in Chinese]
F Wu  1 , X N Ji  1 , Q Chen  1
Affiliations

[Research progress on pathogenesis and treatment of neurofibromatosis type 1]

[Article in Chinese]
F Wu et al. Zhonghua Er Ke Za Zhi. .

Abstract

1型神经纤维瘤病（NF1）是NF1基因变异所致的常染色体显性遗传病，是常见的神经皮肤综合征之一，多于儿童期起病，临床表现包括咖啡牛奶斑、神经纤维瘤、视路胶质瘤等。NF1基因对不同信号通路调控的复杂性是其多样性临床表现的基础。随着分子生物学、遗传学的发展以及对该病认识的提高，关于NF1的研究不断取得进展。本文将综述NF1的发病机制及治疗进展，以期为其诊疗提供更多思路。.

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