Ⅰ型神经纤维瘤病多学科诊治指南 （2023 版）.docx

罕见病研究

JournalofRareDiseases

210April,2023

·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:zhuych910@163.com

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(NF1)是由于NF1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，以神经纤维瘤为特征性表型，可伴多系统受累，且存在肿瘤恶变风险。NF1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士，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】Ⅰ型神经纤维瘤病；多学科；指南

DOI:10.12376/j.issn.2097?0501.2023.02.

DOI:10.12376/j.issn.2097?0501.2023.02.009

GuidelinesfortheMultidisciplinaryDiagnosis

andTreatmentofNeurofibromatosisType1(2023Version)

MultidisciplinaryDiagnosisandTreatmentCollaborationGroupforNeurofibromatosisType1ofChinaAllianceforRareDiseases

Correspondingauthor:ZHUYicheng,E?mail:zhuych910@163.com

DepartmentofNeurology,PekingUnionMedicalCollegeHospital,ChineseAcademyofMedicalSciencesPekingUnionMedicalCollege,Beijing100730,China

【Abstract】Neurofibromatosistype1(NF1)isanautosomaldominanthereditaryneoplasticdisease

causedbymutationsintheNF1gene.Featuresofdisordertypicallyappearinearlychildhood.Theclinicalphe?

notypesofthepatientsarediversebutneurofibromasisthemainfeature.PatientswithNF1alsosufferfrom

treatment,follow?upandpatientsmanagement.Therefore,itisimperativetodevelopamultidisciplinarycollab?multi?system

treatment,follow?upandpatientsmanagement.Therefore,itisimperativetodevelopamultidisciplinarycollab?

orativediagnosisandtreatmentprotocol.UndertheleadershipofChinaAllianceforRareDiseases,amultidisci?

plinarydiagnosisandtreatmentcollaborativeteamforNF1hasbeenformedandworkedouttheguideline.This

guidelineintendstoliftthediagnosisandtreatmentlevelforNF1andtoprovidetheguidelineforstandardized

treatmentforNF1patientsinChina.

JRareDis,2023,2(2):210-230【Keywords】neurofibromatosis

JRareDis,