Neurofibromatosis 2 (Bilateral Acoustic or Central Neurofibromatosis), a Treatable Cause of Deafness
Neurofibromatosis 2 (Bilateral Acoustic or Central Neurofibromatosis), a Treatable Cause of Deafness
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神经纤维瘤病 2（双侧声学或中枢神经纤维瘤病），一种可治疗的耳聋原因
DOI：
10.1111/j.1749-6632.1991.tb19615.x
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发表时间：
1991
影响因子：
5.2
通讯作者：
R. Eldridge
中科院分区：
文献类型：
--
作者：
D. M. Parry;M. I. Kaiser;J. L. Sherman;A. Pikus;R. Eldridge
神经纤维瘤病2（NF 2）是一种常染色体显性遗传疾病，其特征是双侧听神经瘤（AN）-实际上是第8脑神经复合体前庭部分的神经鞘瘤。NF 2的临床过程是可变的，在某些情况下可能是相对良性的。“如果肿瘤进展发生，AN的压力可能会在第二或第三个十年导致听力损失和前庭症状，但更早和更晚发生。其他脑肿瘤和周围肿瘤以及脊髓肿瘤和后囊膜透镜混浊（PC）在年轻人中很常见。PC是最近才被认可的协会。* AN和相关肿瘤中22 q中间的DNA标记丢失表明该区域含有NF 2基因;连锁分析证实了这一点在一个大的家族？NF 2与NF 1（von Recklinghausen病）在临床特征、自然史和基因定位方面不同。据我们所知，AN尚未在任何NF 1家族中报告。NF 2也必须与单侧AN（UAN）的零星发生相区别。这种孤立性肿瘤倾向于在生命后期发展，不是遗传的，并且引起的管理问题要少得多。没有基于人群的NF 2患病率的估计，但在密歇根州的一项基于医学的NF调查中，107个NF家庭中有8个（7.5%）有一名或多名成员患有AN;在NF 2中，临床评价的任何一个方面都不能鉴定所有的基因携带者，因此，及时诊断需要对个别病人和有危险的一级亲属进行多学科研究。我们的评估包括病史和体格检查、脑钆磁共振成像（MRI+ GD）、测听、导抗测试和声反射研究、听性脑stemevoked反应（ABR）和散瞳晶状体裂隙灯检查。自1987年7月以来，我们检查了42例NF_2患者，其中26例来自8个多发家系，48例一级亲属，4例30岁以前确诊的UAN患者。我们在这里报告了我们最大的NF 2家族的结果（图1）。
Neurofibromatosis 2 (NF2) is an autosomal dominant disorder characterized by bilateral acoustic neuromas (ANs)-actually schwannomas of the vestibular portion of the 8th cranial nerve complex. The clinical course of NF2 is variable and in some may be relatively benign.'If tumor progression occurs, pressure from ANs may cause hearing loss and vestibular symptoms in the second or third decade, but earlier and later onset occurs. Other tumors of the brain and periphery as well as spinal cord, and posterior capsular lens opacities (PCs) are common in young adults. PCs are a recently recognized association.* Loss of DNA markers from the middle of 22q in ANs and related tumors suggested this region contained the NF2 gene; linkage analysis confirmed this in one large kindred? NF2 differs from NF1 (von Recklinghausen's disease) in its clinical features, natural history, and gene location. To our knowledge, ANs have not been reported in any family with NF1. NF2 must also be distinguished from the sporadic Occurrence of unilateral AN (UAN). This solitary tumor tends to develop later in life, is not inherited, and raises far fewer management issues. No population-based estimate of the prevalence of NF2 exists, but in a medically based survey of NF in Michigan, 8 of 107 families with NF (7.5%) had one or more members with ANs; by inference suggesting at least 5000 cases of NF2 in the United States.In NF2, no single aspect of the clinical evaluation will identify all gene carriers, so that timely diagnosis requires multidisciplinary study of individual patients and at-risk first-degree relatives. Our evaluation includes history and physical examination, magnetic resonance imaging of the brain with gadolinium (MRI+ GD), audiometry, immittance testing and acoustic reflex studies, auditory brain-stemevoked responses (ABRs) and slit-lamp examination of the lenses with dilated pupils. Since July 1987, we have examined 42 persons with NF2 including 26 from 8 multiplex families, 48 first-degree relatives, and 4 persons with UAN diagnosed before age 30. We report here the results on our largest NF2 family (FIGURE 1).
影响因子：
158.5
作者：
MARTUZA, RL;ELDRIDGE, R
通讯作者：
ELDRIDGE, R