Liu Pi'nan
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, P. R. China.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2024 Oct 15;38(10):1166-1170. doi: 10.7507/1002-1892.202407005.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by mutations in the gene. The disease is characterized by neurofibromatosis, which simultaneously affects multiple systems such as nerves, skin, and bone, and has complex clinical manifestations. Since the National Institutes of Health (NIH) established diagnostic criteria in 1988, the diagnosis and treatment of NF1 have progressed significantly. However, due to the complexity of the disease and the lack of effective treatments, the diagnosis and treatment of NF1 still face many challenges. Strengthening multidisciplinary collaboration, improving and popularizing disease diagnosis and treatment strategies, and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.
1型神经纤维瘤病（NF1）是一种由该基因的突变引起的常染色体显性遗传病。该疾病的特征为神经纤维瘤病，它同时影响神经、皮肤和骨骼等多个系统，并且具有复杂的临床表现。自美国国立卫生研究院（NIH）于1988年制定诊断标准以来，NF1的诊断和治疗取得了显著进展。然而，由于该疾病的复杂性以及缺乏有效的治疗方法，NF1的诊断和治疗仍然面临许多挑战。加强多学科协作、改进和普及疾病诊断与治疗策略以及开发更有效的药物和治疗方法是进一步提高NF1疾病治疗水平的关键。
