儿童丛状神经纤维瘤的诊治进展

王生才; 李艳珍; 张杰; 倪鑫

doi:10.13201/j.issn.2096-7993.2022.06.015

儿童丛状神经纤维瘤的诊治进展

- 首都医科大学附属北京儿童医院耳鼻咽喉头颈外科国家儿童医学中心儿童耳鼻咽喉头颈外科疾病北京市重点实验室(北京，100045)
基金项目:
首都临床诊疗技术研究及转化应用(No：Z201100005520077)

详细信息

通讯作者: 倪鑫，E-mail：nixin@bch.com.cn

中图分类号: R596.1

收稿日期: 2021-08-14

刊出日期: 2022-06-03

Progress in diagnosis and treatment of neurofibromatosis in children

- Department of Otolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing Key Laboratory for Pediatric Disease of Otolaryngology Head and Neck Surgery, Beijing, 100045, China

More Information

Corresponding author: NI Xin, E-mail: nixin@bch.com.cn

Received Date: 14 August 2021

Publish Date: 03 June 2022

摘要

摘要: Ⅰ型神经纤维瘤病(NF1)是一种常染色体显性遗传病，是由位于染色体17q11.2的NF1基因突变导致神经纤维蛋白失活或表达下调，从而产生以神经纤维瘤为主要特征的一系列神经皮肤损害。丛状神经纤维瘤(PN)作为NF1的主要表现之一，常引发患者疼痛、功能障碍、骨骼畸形、外貌变化等多种症状，严重者可造成气道及重要器官受压，危及生命，且PN有向恶性转化的风险。目前，其治疗仍是一个棘手的问题，手术是治疗PN的主要方法，但常常难以完全切除。近些年，针对PN的化学药物治疗成为热点。本文对近年来PN的发病机制、诊断及治疗等方面的研究进展进行综述。
- 儿童 /
- Ⅰ型神经纤维瘤病 /
- 丛状神经纤维瘤 /
- 诊断 /
- 治疗
Abstract: Neurofibromatosis type 1(NF1) is an autosomal dominant genetic disease in which a mutation in the NF1 gene on chromosome 17q11.2 results in inactivation or down-regulation of neurofibromin. This results in a series of neurocutaneous lesions characterized by neurofibromatosis. Patients with plexiform neurofibromas(PN), as one of the main manifestations of NF1, often experience pain, dysfunction, skeletal deformities, changes in appearance and other symptoms. In severe cases, compression of the airways and vital organs occurs, and the PN is at risk of malignancy progression. At present, its treatment is still challenging. Surgery is the primary treatment for PN, but complete resection is often difficult. In recent years, chemotherapy for PN has become a hot topic. This article reviews the research progress in the pathogenesis, diagnosis and treatment of PN in recent years.
- child /
- neurofibromatosis type 1 /
- plexiform neurofibromas /
- diagnosis /
- therapy

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