Ⅰ型神经纤维瘤病(neurofibromatosis type 1,NF1)是一种由NF1基因突变引起的常染色体显性遗传疾病,以神经纤维瘤为主要疾病特征,同时影响神经、皮肤和骨骼等多个系统,具有复杂的临床表现.自1988年美国国立卫生研究院(NIH)制定诊断标准以来,NF1的诊断和治疗取得了显著进展.然而,由于疾病的复杂性和有效治疗方法的欠缺,NF1的诊治仍面临诸多挑战.加强多学科协作,完善并普及疾病的诊治策略,研发更有效的药物和治疗方法是进一步提高NF1疾病治疗水平的关键.
Progress and prospects in diagnosis and treatment of neurofibromatosis type 1
Neurofibromatosis type 1(NF1)is an autosomal dominant genetic disease caused by mutations in the NF1 gene.The disease is characterized by neurofibromatosis,which simultaneously affects multiple systems such as nerves,skin,and bone,and has complex clinical manifestations.Since the National Institutes of Health(NIH)established diagnostic criteria in 1988,the diagnosis and treatment of NF1 have progressed significantly.However,due to the complexity of the disease and the lack of effective treatments,the diagnosis and treatment of NF1 still face many challenges.Strengthening multidisciplinary collaboration,improving and popularizing disease diagnosis and treatment strategies,and developing more effective drugs and treatment methods are the keys to further improve the treatment level of NF1 diseases.
Neurofibromatosis type 1multidisciplinarydiagnosistreatmentclinical research
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