Li Qingfeng, Wang Zhichao, Wei Chengjiang
Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China.
Neurofibromatosis Type 1 Center and Laboratory for Neurofibromatosis Type 1 Research, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, P. R. China.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi. 2024 Oct 15;38(10):1157-1160. doi: 10.7507/1002-1892.202406062.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disease caused by the mutations in the gene, with an incidence of approximately 1/3 000. Affecting multiple organs and systems throughout the body, NF1 caused a wide variety of clinical symptoms. A comprehensive multidisciplinary diagnostic and treatment model is needed to meet the diverse needs of NF1 patients and improve their quality of life. In recent years, the emergence of targeted therapies has further benefited NF1 patients, and the number of clinical consultations has increased dramatically. However, due to the rarity of the disease itself and insufficient attention previously, the standardized, systematic, and precise diagnosis and treatment model of NF1 still needs to be further improved. In this paper, we reviewed the current status of comprehensive diagnosis and treatment of NF1 in China, combine with our long-term experiences in diagnosis and treatment of this disease. Meanwhile, we propose future directions and several suggestions for the comprehensive diagnosis and treatment model for Chinese NF1 patients.
1型神经纤维瘤病（NF1）是一种由该基因突变引起的常染色体显性遗传病，发病率约为1/3000。NF1影响全身多个器官和系统，引发多种临床症状。需要一个全面的多学科诊断和治疗模式来满足NF1患者的多样化需求并提高他们的生活质量。近年来，靶向治疗的出现使NF1患者进一步受益，临床会诊数量急剧增加。然而，由于该疾病本身罕见且此前关注度不足，NF1的标准化、系统化和精准诊断及治疗模式仍有待进一步完善。在本文中，我们结合长期诊治该病的经验，回顾了中国NF1综合诊治的现状。同时，我们提出了未来方向以及针对中国NF1患者综合诊治模式的若干建议。
