中国罕见病联盟Ⅰ型神经纤维瘤病多学科诊疗协作组. Ⅰ型神经纤维瘤病多学科诊治指南(2023版)[J]. 罕见病研究, 2023, 2(2): 210-230. DOI: 10.12376/j.issn.2097-0501.2023.02.009
引用本文: 中国罕见病联盟Ⅰ型神经纤维瘤病多学科诊疗协作组. Ⅰ型神经纤维瘤病多学科诊治指南(2023版)[J]. 罕见病研究, 2023, 2(2): 210-230. DOI: 10.12376/j.issn.2097-0501.2023.02.009
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases. Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)[J]. Journal of Rare Diseases, 2023, 2(2): 210-230. DOI: 10.12376/j.issn.2097-0501.2023.02.009
Citation: Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases. Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)[J]. Journal of Rare Diseases, 2023, 2(2): 210-230. DOI: 10.12376/j.issn.2097-0501.2023.02.009

Ⅰ型神经纤维瘤病多学科诊治指南(2023版)

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)

  • 摘要: Ⅰ型神经纤维瘤病(NF1)是由于NF1基因突变引起的常染色体显性遗传性肿瘤性疾病。患者多幼年起病,临床表现复杂,以神经纤维瘤为特征性表型,可伴多系统受累,且存在肿瘤恶变风险。NF1诊断难度大,其治疗、随访、管理等多方面存在挑战,多学科协同诊治及流程的制定势在必行。因此中国罕见病联盟Ⅰ型神经纤维瘤病多学科诊疗协作组联合国内相关专业人士,共同制定本指南,旨在提高NF1诊疗水平,为患者提供同质化医疗服务。

     

    Abstract: Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of disorder typically appear in early childhood. The clinical phenotypes of the patients are diverse but neurofibromas is the main feature. Patients with NF1 also suffer from multi-system involvement and have high risk of malignant tumor. NF1 poses significant challenges for diagnosis, treatment, follow-up and patients management. Therefore, it is imperative to develop a multidisciplinary collaborative diagnosis and treatment protocol. Under the leadership of China Alliance for Rare Diseases, a multidisciplinary diagnosis and treatment collaborative team for NF1 has been formed and worked out the guideline. This guideline intends to lift the diagnosis and treatment level for NF1 and to provide the guideline for standardized treatment for NF1 patients in China.

     

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