Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)是由于NF1基因突变引起的常染色体显性遗传病,其发病率约1/3 000,累及全身多器官、系统,临床症状丰富.基于此,多学科共同参与,联合遗传筛查、介入、手术、药物等多种诊疗手段的综合诊疗模式,是解决NF1患者多样化诉求、改善患者生存质量的必要手段.近年来,靶向治疗药物的出现进一步丰富了 NF1患者的综合诊疗手段,临床就诊人数激增.然而,由于该病本身的罕见性及业内对其关注度长期不足,规范化、系统化、精准化的NF1综合诊疗模式仍有待进一步完善.本文对我国NF1当前综合诊疗现状进行概述,结合长期对该病的诊疗和研究经验,提出几点我国NF1综合诊疗体系的未来发展方向和建议,以期进一步推动该病高质量规范综合诊疗体系的建立与发展.
Several suggestions for improving diagnosis and management of patients with neurofibromatosis type 1
Neurofibromatosis type 1(NF1)is an autosomal dominant genetic disease caused by the mutations in the NF1 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.
Neurofibromatosis type 1comprehensive treatmentprecision medicineartificial intelligence
万方数据
维普
