Yang Xiangyu,Zhu Guanghui.Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases[J].Journal of Clinical Pediatric Surgery,2025,(04):307-311.[doi:10.3760/cma.j.cn101785-202502047-002]
Ⅰ型神经纤维瘤病及相关骨科疾病的诊断和治疗
- Title:
- Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases
- Keywords:
- Neurofibromatosis Type 1; Bone Diseases; Osteoporosis; Scoliosis; Pseudarthrosis; Tibia; Diagnosis; Therapy
- 摘要:
- Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)是NF1基因突变导致的常染色体遗传病,典型临床症状包括牛奶咖啡斑、神经纤维瘤、NF1相关骨骼损害等。目前NF1相关骨科疾病如脊柱侧凸、先天性胫骨假关节、骨质疏松等逐渐被重视,其多学科诊疗和疾病管理成为研究的重点。本文阐述NF1及相关骨科疾病的诊疗进展,以提高临床对其多学科全程管理的认识,改善患者生存质量。
- Abstract:
- neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the NF1 gene.Typical clinical manifestations include café-au-lait macules,neurofibromas,and NF1-related skeletal lesions.In recent years,increasing attention has been paid to orthopedic conditions associated with NF1,such as scoliosis,congenital pseudarthrosis of the tibia,and osteoporosis.Multidisciplinary diagnosis,treatment,and disease management have become key research areas.This review aims to describe advancements in the diagnosis and treatment of NF1 and its related orthopedic diseases,improve clinical awareness of comprehensive,multidisciplinary management of and enhance patients’ quality of life.
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备注/Memo
收稿日期:2025-2-24。
基金项目:国家重点研发计划(2023YFC2507605);儿童骨科学湖南省重点实验室专项(2023TP1019)
通讯作者:朱光辉,Email:zgh5650@163.com