罕见病研究Joumal of Rare Diseases·指南与共识·I型神经纤维瘤病多学科诊治指南（2023版)中国罕见病联盟I型神经纤维瘤病多学科诊疗协作组通信作者：朱以诚，E-mail:chuyc h910@163.cm中国医学科学院北京协和医院神经科，北京100730【摘要】I型神经纤维瘤病(N℉I)是由于FI基因突变引起的常染色体显性遗传性肿瘤性疾病。患者多幼年起病。临床表现复杂，以神经纤雏瘤为特征性表型，可伴多系统受累，且存在肿瘤恶变风险。N门诊断难度大，其治疗、随访、管理等多方面存在挑战，多学科协同诊治及流程的制定势在必行。因此中国罕见病联盟I型神经纤维瘤病多学科诊疗协作组联合国内相关专业人土，共同制定本指南，旨在提高NF1诊疗水平，为患者提供同质化医疗服务。【关键词】【型神经纤维瘤病：多学科：指南【中图分类号】R739.4【文献标志码】A【文章编号】20970501(2023)02-0210-21D0:10.12376/i.issm.20970501.2023.02.009Guidelines for the Multidisciplinary Diagnosisand Treatment of Neurofibromatosis Type 1 2023 Version)Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of ChinaAlliance for Rare DiseasesCorresponding author:ZHU Yicheng.E-mail:zhuych910@163.comDepartment of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical SciencesPeking Union Medical College,Beijing 100730,China[Abstract Neurofibromatosis type 1 NF1)is an autosomal dominant hereditary neoplastic diseasecaused by mutations in the NFI gene.Features of disorder typically appear in early childhood.The clinical phe-notypes of the patients are diverse but neurofibromas is the main feature.Patients with NFI also suffer frommulti-system involvement and have high risk of malignant tumor.NFI poses significant challenges for diagnosis,treatment,follow-up and patients management.Therefore,it is imperative to develop a multidisciplinary collab-orative diagnosis and treatment protocol.Under the leadership of China Alliance for Rare Diseases,a multidisci-plinary diagnosis and treatment collaborative team for NFI has been formed and worked out the guideline.Thisguideline intends to lift the diagnosis and treatment level for NFI and to provide the guideline for standardizedtreatment for NFI patients in China.[Key words]neumofibromatosis type 1:multi-iscipline:guidelineJ Rare Dis.2023.2(2):210-230I型神经纤维瘤病(neurofibromatosis type 1,等旧。患者多幼年起病，临床表现多样，以咖啡牛奶NFI)是由NF1基因突变引起的常染色体显性遗传性斑(caféau lait macules,CALMs)和多发性神经纤维肿瘤性疾病，其患病率估测为1/4000~1/2000不瘤为特征。神经纤维瘤是一类良性的施万细胞肿瘤，引用本文：中国罕见病联盟1型神经纤维精病多学科珍疗协作组.1型神经纤维精病多学科诊治指南(2023园川·.罕见病研究，2023，2(2):210-230.ki:10.12376/j.in.2097-0501.2023.02.009.210 April,2023
