目的 概述Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)相关术语及定义,以期对现有术语体系进行规范和统一.方法 查阅国内外NF1相关研究文献,对该疾病及相关术语的表述进行总结.结果 当前对于NF1的认知仍然存在一定局限性,特别是在疾病的术语表述方面,不同的医学文献和临床指南中对于NF1相关特征的命名和描述存在差异.该文通过系统文献回顾,对NF1相关遗传类型、临床表现和病理特征的术语及定义进行了详细梳理和归纳,对现有诊断标准和术语体系进行进一步规范和统一.结论 通过对NF1定义及相关术语进行厘定,以期增进临床医生和研究人员对该疾病的相关认知.
Clarification the terms and definitions related to neurofibromatosis type 1
Objective To summarize the terms and definitions related to neurofibromatosis type 1(NF1)with a view to standardizing and unifying the existing terminology system.Methods To review the research literature related to NF1 at home and abroad,and to summarize the expressions of the disease and related terms.Results There are still some limitations in the current knowledge of NF1,especially in the expression of the terminology,and there are discrepancies in the description and naming of NF 1-related features in different medical literatures and clinical guides.There are differences in the description and naming of NF 1-related features in different medical literature and clinical guidelines.Through a systematic review of the literature,this paper provides a detailed compendium and summary of the terms and definitions of NF 1-related clinical manifestations,pathological features,and genetic types,and further standardizes and unifies existing diagnostic criteria and terminology systems.Conclusion The terms and definitions of NF 1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.
Neurofibromatosis type 1cutaneous neurofibromaplexiform neurofibromatermdefinition
万方数据
维普
