厘定Ⅰ型神经纤维瘤病相关术语与定义

Clarification the terms and definitions related to neurofibromatosis type 1

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。

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 NFl at home and abroad,and to summarize the expressions of the disease and related terms.ResultsThere are still some limitations in the current knowledge of NFl,especially in the expression of the terminology,and there are discrepancies in the description and naming of NFl-related features in different medical literatures and clinical guides.There are differences in the description and naming of NF1-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 NF1-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 NF1-related clinical manifestations are summarized to enhance the knowledge of clinicians and researchers related to NF1.