神经纤维瘤病1型患者的终身管理
Lifelong Management of Neurofibromatosis 1 Patients.
作者信息
Chong Sangjoon
机构信息
Department of Neurosurgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
出版信息
J Korean Neurosurg Soc. 2025 May;68(3):261-271. doi: 10.3340/jkns.2025.0057. Epub 2025 Apr 16.
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.
1型神经纤维瘤病(NF1)是一种常见的遗传性疾病,其临床表现广泛,包括皮肤、神经和肿瘤并发症。该疾病由NF1基因突变引起,该基因编码神经纤维瘤蛋白,一种调节RAS/丝裂原活化蛋白激酶(MAPK)途径的肿瘤抑制因子。神经纤维瘤蛋白功能的丧失使个体易患良性和恶性肿瘤,包括恶性外周神经鞘瘤、视路胶质瘤和胃肠道间质瘤。此外,患有NF1的女性患乳腺癌的风险在年轻时显著增加,因此需要加强监测措施。除了肿瘤风险外,NF1还经常与认知和行为障碍有关,包括学习障碍、注意力缺陷多动障碍和社交沟通困难,这些都会对学业、职业和社会成果产生重大影响。此外,骨骼畸形、心血管异常和慢性疼痛等全身并发症进一步加重了疾病负担。鉴于NF1的进行性和终身性,采用多学科管理、早期检测和针对性干预的综合护理策略对于优化患者预后至关重要。本综述强调了一种综合的、终身管理方法的重要性,该方法兼顾NF1的医学和心理社会方面。通过实施量身定制的监测计划和循证干预措施,医疗保健提供者可以提高生活质量,降低与这种复杂疾病相关的发病率和死亡率。