临床小儿外科杂志2025，Vol.24Issue(4)：307-311,5.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
Diagnosis and treatment of neurofibromatosis type 1 and related orthopedic diseases
摘要
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 skel-etal 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 di-agnosis and treatment of NF1 and its related orthopedic diseases,improve clinical awareness of comprehensive,multidisciplinary management of and enhance patients'quality of life.关键词
Ⅰ型神经纤维瘤病/骨疾病/骨质疏松/脊柱侧凸/假关节,胫骨/诊断/治疗Key words
Neurofibromatosis Type 1/Bone Diseases/Osteoporosis/Scoliosis/Pseudarthrosis,Tibi-a/Diagnosis/Therapy引用本文复制引用
杨翔宇,朱光辉..Ⅰ型神经纤维瘤病及相关骨科疾病的诊断和治疗[J].临床小儿外科杂志,2025,24(4):307-311,5.基金项目
国家重点研发计划(2023YFC2507605) （2023YFC2507605）
儿童骨科学湖南省重点实验室专项(2023TP1019) National Key Research and Development Program(2023YFC2507605) （2023TP1019）
Special Project of Hunan Provincial Key Laboratory of Pediatric Orthopedics(2023TP1019) （2023TP1019）
