神经纤维瘤病

About 神经纤维瘤病

定义

神经纤维瘤病 is a genetic problem that causes tumors to grow in 神经系统. Tumors form in the nerves or the tissue around the nerves, called 髓鞘. There are 3 types—neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. They are grouped by the genes that are affected.

This articles discusses NF1, the most common type. 它会影响 nerves outside the brain and spinal cord. These are called peripheral nerves.

神经系统

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原因

NF1 is caused by a change in a gene that normally makes proteins to 控制增长 in the nerves. When the gene is not working the proteins cannot 控制增长. Then tumors can form.

The abnormal gene is often passed to a person from a parent. A person with this form of NF has a 50% chance of passing the abnormal gene to each child. Any parents, children, and siblings of a person who has NF could be at risk for it.

The gene change can also happen in a person who has no family NF的历史.

风险因素

A person is more at risk for NF if they have a family member with it.

症状

Most symptoms start by age 10. NF1可能导致:

• Light brown spots (called café au lait spots) on the skin
• Freckles in the armpits or groin
• Larger than normal head size in children
• Shorter than normal stature in children
• Problems with how the spine, skull bones, or shin bones grow

Other medical issues that are linked to NF1 include:

• Learning issues such as attention deficit hyperactivity 障碍 (ADHD) or other mental 问题
• 癫痫发作
• 头痛
• Problems with the heart or blood vessels
• High blood pressure

诊断

You will be asked about symptoms and health history. 一个物理 检查就完成了. It may take a few years before NF1 is diagnosed. NF1 may be suspected if there is a history of:

• Neurofibromas (tumors that grow on a nerve or nerve tissue)— these rarely happen before puberty, but they can start growing fast and spread through the body
• Growths on the iris of the eye (called Lisch nodules or hamartomas)
• Tumor on the optic nerve that may change vision (optic nerve gliomas)

Images may be taken of your nerves and brain. 这是可以做到的 与一个 核磁共振成像扫描. Samples of tumors may also be removed and sent for a biopsy.

Genetic testing may be advised for families with a history of NF. It may be possible to use 羊膜穿刺术 或绒毛膜 villus sampling to diagnose a fetus with NF before birth.

You may be asked to see other doctors who can look for tumors in 神经系统.

治疗

The goal of treatment is to control symptoms the tumors cause. There are no treatments to stop these tumors from growing. 治疗 may not be needed since these tumors are rarely cancerous. They often grow slowly and may not cause 问题. Regular exams are advised to check for new tumors or symptoms.

Surgery may be done to remove tumors that hurt or bother someone. Medicines and therapies may also be needed to manage other symptoms such as seizures and 学习问题.

Rarely, some tumors can become cancerous. These tumors may need to be treated with:

预防

NF1 cannot be prevented.

参考文献

• 兰德里,J.P.舒尔茨，K.L.等。. Comparison of cancer prevalence in patients with neurofibromatosis type 1 at an academic cancer center vs in the general population from 1985 to 2020. JAMA Network Open, 2021; 4(3): e210945.
• 神经纤维瘤病. Children's Tumor Foundation website. 可以在: http://www.清洁技术基金.org/understanding-nf/nf1.
• 神经纤维瘤病 (N1, N2). Your Genes Your Health website. 可以在: http://www.yourgenesyourhealth.org/nf/whatisit.htm. Accessed January 28, 2021.
• 神经纤维瘤病. National Institute of Neurological Disorders and 中风 website. 可以在: http://www.研究所.国家卫生研究院.gov/health-information/障碍s/neurofibromatosis.
• 神经纤维瘤病 type 1. EBSCO DynaMed website. 可用 在:http://www.力学.com/condition/neurofibromatosis-type-1.