Ⅰ型神经纤维瘤病诊治进展.pdf

上海口腔医学 2007年12月 第16卷 第6期 Shanghai JournM ofStomatology Vo1．16 No．6 December，2007 ·561· [文章编~-]1006—7248(2007)06—0561—09 · 述 评· Edit0rial l型神经纤维瘤病诊治进展 郑家伟，孙坚，张志愿 (上海交通大学医学院附属第九人民医院·El腔医学院 El腔颌面外科，上海 200011) 【提要】I型神经纤维瘤病(NF1)是一种常染色体显性遗传神经皮肤疾病，其临床表现多样、复杂，治疗困难。分子生 物学和影像学技术的进步以及大鼠模型的建立，使人们对其病因、发病机制和临床表现的认识更加深入．有望在治 疗方面取得突破。本文复习相关文献，对NF1的发病机制、诊断标准、主要鉴别诊断、临床表现以及监测、处理NF1 并发症的当前策略进行了概述。 【关键词】神经纤维瘤病；I型神经纤维瘤病；Yon Recklinhausen病；神经纤维蛋白；牛奶咖啡色斑 【中图分类号】R739．8 【文献标识码】A Advances in diagnosis and treatment of Neurofibromatosis type 1 ZHENG Jia-wei，SUN Jian，ZHANG Zhi—yuan． (Department of Oral and Maxillofacial Surgery,College of Stomatology,Ninth People’S Hospital， School of Medicine， Shanghai Jiao 71， University．Shanghai 200011，China) 【Summary】 Neurofibromatosis type 1(NF1)is one of the most common neurogenetic diseases affecting adults and children． It is an autosomal dominant disorder， characterized by multiple system damages derived from the abnormal differentiation of the neural crest cells， but its pathogenesis is still unclear． Recent progress in molecular biology， neuroimaging and the development of mouse models have helped to elucidate the aetiology and clinical manifestations of NF1． Furthermore， these advances have raised the prospect of alternative treatment approaches for this complex and distressing disease．The diagnostic criteria，major differential diagnoses，clinical manifestations and the present strategies for monitoring and management of NF1 complications are reviewed and discussed in this PaPer． Supported by Shanghai Leading Academic Discipline Project(Gr