摘要
Ⅰ型神经纤维瘤病(NF1)是由NF1基因突变导致的遗传性疾病,以神经纤维瘤为特征性表现,可累及全身多系统,往往合并脊柱侧凸、神经系统异常等,临床表现复杂且存在恶变风险,作为临床疑难病种其诊疗难度大。继我国2021版Ⅰ型神经纤维瘤病临床诊疗专家共识后,最近我国罕见病联盟撰写并发表《Ⅰ型神经纤维瘤病多学科诊治指南(2023版)》,文章就其基因诊断、手术注意事项和骨科相关临床症状方面展开解读,以期推动该指南的临床应用。
Type Ⅰ neurofibromatosis(NF1)is a genetic disease caused by mutations in the NF1 gene.It is characterized by neurofibromatosis and can affect multiple systems throughout the body,often accompanied by scoliosis and neurological abnormalities.The clinical manifestations are complex and there is a risk of malignancy.As a clinically difficult disease,its diagnosis and treatment are difficult.Following the consensus among experts in the clinical diagnosis and treatment of type Ⅰ neurofibromatosis in China in 2021,the China Rare Disease Alliance has recently written and published a multidisciplinary diagnosis and treatment guide for type Ⅰ neurofibromatosis in 2023.The article provides an interpretation of its genetic diagnosis,surgical considerations,and orthopedic related clinical symptoms,with the aim of promoting its clinical application.
作者
杨满红
王平
夏迪
张清
Yang Manhong;Wang Ping;Xia Di;Zhang Qing(The Second Department of Spine,Wangjing Hospital,Chinese Academy of Traditional Chinese Medicine,Beijing 100102,China;不详)
出处
《疑难病杂志》
CAS
2023年第11期1121-1125,共5页
Chinese Journal of Difficult and Complicated Cases
基金
中国中医科学院科技创新工程—重大攻关项目(CI2021A02003)
中央级公益性科研院所基本科研业务费专项资金资助(ZZ15-XY-PT-12)
首都卫生发展专项项目(2018-2-4162)。
关键词
Ⅰ型神经纤维瘤病
疑难病
指南
解读
Type Ⅰ neurofibromatosis
Intractable diseases
Guideline
Interpretation
