Ⅱ型神经纤维瘤病治疗策略

Treatment strategies of neurofibromatosis type Ⅱ

神经纤维瘤病是源于神经嵴细胞分化异常而导致的多系统损害的常染色体显性遗传性疾病,常累及神经、肌肉、骨骼、内脏及皮肤。神经纤维瘤病是一种先天性发育不良性疾病,根据其临床特点和责任基因的不同可分为I型(NF1)和Ⅱ型(NF2)两种类型。与Ⅰ型神经纤维瘤病相比,Ⅱ型神经纤维瘤病的发病率更低。约为3/10万患者发生前庭神经许旺细胞瘤和其他肿瘤,包括脑膜瘤、室管膜瘤和星形细胞瘤等以及外周神经许旺细胞瘤。许多患者还可出现晶状体囊混浊。

Neurofibromatosis is an autosomal dominant disorder caused by abnormal differentiation of neural crest cells,which often involves the nerve,muscle,bone,internal organs and skin. Neurofibromatosis is a congenital development benign disease,according to its clinical characteristics and responsibilities gene of different type can be divided into type I（NF1） and Ⅱ（NF2）two types. Compared with type I,neurofibromatosis type Ⅱ has a lower incidence of neurofibromatosis.About 3/10 of all patients with vestibular nerve schwann cell tumor and other tumours,including meningiomas,ependymoma and astrocytoma and peripheral nerve schwann cell tumor. Many patients also can appear capsule opacity.