Ⅰ型神经纤维瘤病诊治进展

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。

Advances in diagnosis and treatment of type 1

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(Grant No.Y0203).