Clarke Linda
Division of Neurosurgery, QEII Health Science Centre, Halifax, Nova Scotia.
Can J Neurosci Nurs. 2009;31(4):7-14.
Neurofibromatosis 2 (NF2) is a complex autosomal dominant genetic disorder, now recognized to occur as a result of a mutation on chromosome 22. It is estimated to affect one in every 40,000 individuals worldwide. NF2's clinical manifestations of bilateral vestibular schwannomas and multiple other nervous system tumours have far-reaching implications for patients and families diagnosed with this challenging disorder. Management of these families should occur at specialty centres with the ability to provide treatment of these tumours, if necessary, as well as to have access to genetic testing and counselling. Decisions should be made with the quality of life of each individual as the cornerstone of care: knowing when to and when not to intervene is essential. The Atlantic Lateral Skull Base Clinic in Halifax follows approximately 400 patients with unilateral vestibular schwannomas and other skull base lesions. Twelve NF2 families are followed in this clinic. Several of their amazing stories will be shared in this presentation. Much can be done to effectively manage NF2 and help patients and families live healthy, happy and productive lives.
神经纤维瘤病2型（NF2）是一种复杂的常染色体显性遗传病，目前认为是由22号染色体上的突变引起的。据估计，全球每4万人中就有1人受其影响。NF2的双侧前庭神经鞘瘤及其他多种神经系统肿瘤的临床表现，对被诊断患有这种具有挑战性疾病的患者及其家庭有着深远影响。对这些家庭的管理应在具备能力的专科中心进行，如有必要，这些中心能够提供肿瘤治疗，还能进行基因检测和咨询。决策应以每个人的生活质量为护理基石：知道何时干预、何时不干预至关重要。哈利法克斯的大西洋侧颅底诊所跟踪了约400例单侧前庭神经鞘瘤及其他颅底病变患者。该诊所跟踪了12个NF2家庭。本次报告将分享其中几个令人惊叹的故事。在有效管理NF2并帮助患者及其家庭过上健康、快乐和充实生活方面，有很多工作可做。
