Management of the patient and family with neurofibromatosis 2: a consensus conference statement
Management of the patient and family with neurofibromatosis 2: a consensus conference statement
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DOI：
10.1080/02688690500081206
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发表时间：
2005-02-01
影响因子：
1.1
通讯作者：
Ramsden, R
中科院分区：
文献类型：
--
作者：
Evans, DGR;Baser, ME;Ramsden, R
应英国神经纤维瘤病协会的要求，2002年举行了关于神经纤维瘤病2（NF 2）的共识会议，特别强调前庭神经鞘瘤（VS）手术。NF 2患者应在专业治疗中心进行管理，其工作人员对该疾病具有丰富的经验。所有NF 2患者及其家属都应该接受基因检测，因为症状前诊断可以改善疾病的临床管理。NF 2的一些临床表现，如眼部异常，可以在婴儿期检测到;因此，NF 2家族高危成员的临床筛查可以在出生时开始，第一次磁共振（MRI）扫描在10 - 12岁。最小的干扰，维持生活质量，保护功能或听觉康复是NF 2管理的基石，并讨论了不同临床表现的患者实现这些目标的决策点。
A consensus conference on neurofibromatosis 2 (NF2) was held in 2002 at the request of the United Kingdom (UK) Neurofibromatosis Association, with particular emphasis on vestibular schwannoma ( VS) surgery. NF2 patients should be managed at specialty treatment centres, whose staff has extensive experience with the disease. All NF2 patients and their families should have access to genetic testing because presymptomatic diagnosis improves the clinical management of the disease. Some clinical manifestations of NF2, such as ocular abnormalities, can be detected in infancy; therefore, clinical screening for at-risk members of NF2 families can start at birth, with the first magnetic resonance (MRI) scan at 10 - 12 years of age. Minimal interference, maintenance of quality of life, and conservation of function or auditory rehabilitation are the cornerstones of NF2 management, and the decision points to achieve these goals for patients with different clinical presentations are discussed.