神经纤维瘤病

title: 征象与症状.
content: 神经纤维瘤(NF1)早期可能导致学习和行为问题 - 大约60%的患有NF1的儿童在学校中有轻微的困难。 个人可能具有的征象如下:
title: 导因.
content: 神经纤维瘤是一种体染色体显性异常遗传病,这意味着该病症只需要一个受影响基因的复制即可。 如果父母一方患有神经纤维瘤,他或她的孩子也有50%的机会患上神经纤维瘤。 父母的病情严重程度不影响孩子; 即使是从患有严重疾病的父母遗传的,受影响的孩子可能只有轻微的NF1。 神经纤维瘤病的类型是:
title: 病理生理学.
content: 神经纤维瘤(1型)的病理生理学由NF1基因蛋白组成。 该蛋白质是肿瘤抑制因子,因此可作为细胞增殖和分化的信号调节因子。神经纤维瘤的功能障碍可以影响调节,并导致不受控制的细胞增殖。神经纤维瘤中的许旺细胞在NF1等位基因中具有突变。
title: 诊断.
content: 神经纤维瘤被认为是网状活化系统病变和神经皮肤综合症(斑痣性错构瘤病)之一。神经纤维瘤的诊断通过以下方式进行:
title: 鉴别诊断.
content: 可能与NF混淆的条件包括:
title: 治疗.
content: 手术切除肿瘤是其中一种选择,但首先应评估所涉及的风险。关于OPG(视神经通路胶质瘤),优选的治疗是化疗。但是,对于出现这种疾病的儿童,不建议进行放射性治疗。建议早年被诊断为NF1的儿童每年要接受一次检查,这样可以监测任何与该疾病相关的潜在生长或变化。
title: 预后.
content: 在大多数情况下,NF1的症状是轻微的,且个体过着正常和有生产力的生活。然而,在某些情况下,NF1可能会严重衰弱,并可能导致外观和心理问题。 NF2的过程在个体之间差异很大。在某些NF2病例中,对附近重要结构(如其他颅神经和脑干)的损害可能会危及生命。大多数患有神经鞘瘤病的人都有明显的疼痛。在某些极端情况下,疼痛会很严重并且致残障。
title: 流行病学.
content: NF1发生在3000个人中的1个,并且在男性和女性中同样普遍。它是最常见的遗传性神经系统疾病之一。 与普通人相比,受影响的人的预期寿命减少了10至15年。
title: 外部链接.
content: 香港神经纤维瘤 IG @hknfa https://www.instagram.com/hknfa/

Summary: 神经纤维瘤病(NF)有三种情况,其肿瘤于神经系统生长。 这三种类型是神经纤维瘤I型(NF1),神经纤维瘤II型(NF2)和神经鞘瘤。 在NF1中症状包括皮肤上的浅褐色斑点、腋窝和腹股沟有斑、神经内有小肿块及脊柱侧弯。 在NF2症状中,可能存有听力损失、早衰性白内障、平衡问题、肉色皮瓣及肌肉萎缩。 这种肿瘤通常是非癌性的。

Neurofibromatosis: Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous. The cause is a genetic mutation in certain genes. These can be inherited from a person's parents, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. The tumors involve the supporting cells of the nervous system rather than the neurons. In NF1 the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on symptoms, examination, medical imaging, and biopsy. Genetic testing may rarely be done to support the diagnosis. There is no known prevention or cure. Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs. A cochlear implant or auditory brainstem implant may help some who have hearing loss due to the condition. In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2. Males and females are affected equally often. In NF1, symptoms are often present at birth or develop before 10 years of age. While the condition typically worsens with time, most people with NF1 have a normal life expectancy. In NF2, symptoms may not become apparent until early adulthood. NF2 increases the risk of early death. Descriptions of the condition occur as far back as the 1st century. It was formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named.