Ⅰ型神经纤维瘤病研究和诊治进展

Progress in the research and theranostics of neurofibromatosis type Ⅰ

Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)是由位于17q11.2染色体上的神经纤维瘤蛋白1(neurofibromin 1,NF1)基因突变引起的进行性常染色体显性遗传病。NF1可引起全身周围神经病变,但不同患者临床特征出现的时间和损害部位不同,因而临床表现多样。NF1的治疗因损害部位不同而涉及多个学科,以临床监测和对症治疗为主,根治性治疗困难。针对致病基因相关信号通路的靶向药物有望提高NF1的治疗效果。本文对NF1的研究和诊治进展做一总结。

Neurofibromatosis type 1 is a progressive autosomal dominant inherited disease caused by a mutation in neurofibromin 1(NF 1)gene located on chromosome 17q11.2.NF1 can cause systemic peripheral neuropathy,but the clinical manifestations are varied due to the different onset times and lesion sites in different patients.The treatment of NF1 involves multiple disciplines due to different lesion sites.Clinical monitoring and symptomatic treatment are the main methods for NF1 management,while radical treatment is difficult.New drugs targeted at the pathogenic gene-related signaling pathways are expected to improve the therapeutic effect for NF1.This review summarizes the progress in the basic research and clinical diagnosis and treatment of NF1.