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。
Neurofibromatosis type 1(NF1)is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 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 NF1 also suffer from multi⁃system involvement and have high risk of malignant tumor.NF1 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 NF1 has been formed and worked out the guideline.This guideline intends to lift the diagnosis and treatment level for NF1 and to provide the guideline for standardized treatment for NF1 patients in China.
作者
中国罕见病联盟Ⅰ型神经纤维瘤病多学科诊疗协作组
朱以诚
仉建国
田庄
冯逢
巩纯秀
刘丕楠
李青峰
李明
吴南
吴浩
张抒扬
陈忠平
林志淼
钟勇
袁晓军
晋红中
倪鑫
高兴华
盛宇俊
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases;ZHU Yicheng(不详;Department of Neurology,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)
出处
《罕见病研究》
2023年第2期210-230,共21页
Journal of Rare Diseases
关键词
Ⅰ型神经纤维瘤病
多学科
指南
neurofibromatosis type 1
multi⁃discipline
guideline
