Redmann Carolyn
Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton.
J Fam Health Care. 2007;17(3):95-7.
Neurofibromatosis (Nf) comprises a group of conditions that cause benign tumours on the nervous system. It encompasses at least two distinct disorders, neurofibromatosis type 1 (Nf1) and neurofibromatosis type 2 (Nf2). These two conditions differ genetically, but both pose complex health problems. The Nf1 gene was identified on chromosome 17 in 1990 and the Nf2 gene on chromosome 22 in 1992. If the genetic mutation is identified in an individual, genetic prenatal testing is possible. The genetic variability, the range of multisytem clinical features and the unpredictability of the disorder fill many people with fear and anxiety. Nf has significant impact on quality of life through alteration of the patient's health and appearance, and there is no doubt that it affects the lives of the patient's whole family. In the U.K., the charity The Neurofibromatosis Association (NfA) offers information and support for patients, families and health professionals and funds specialist advisers in regional genetics centres throughout the UK. Where specialist advisers are in post, a number of specialist Nf1 and Nf2 clinics have evolved. The role involves direct liaison with schools to provide guidance on educational problems, as well as responding to the needs of the individual and family.
神经纤维瘤病（Nf）是一组可在神经系统上引发良性肿瘤的病症。它涵盖至少两种不同的疾病，即1型神经纤维瘤病（Nf1）和2型神经纤维瘤病（Nf2）。这两种病症在基因上存在差异，但都会引发复杂的健康问题。1990年在17号染色体上鉴定出了Nf1基因，1992年在22号染色体上鉴定出了Nf2基因。如果在个体中鉴定出基因突变，就可以进行基因产前检测。这种疾病的基因变异性、多系统临床特征的范围以及不可预测性让许多人充满恐惧和焦虑。Nf通过改变患者的健康状况和外貌对生活质量产生重大影响，毫无疑问，它会影响患者整个家庭的生活。在英国，慈善机构神经纤维瘤病协会（NfA）为患者、家庭和健康专业人员提供信息和支持，并为英国各地区域遗传学中心的专业顾问提供资金。在设有专业顾问的地方，已经发展出了一些专门的Nf1和Nf2诊所。其职责包括与学校直接联络，就教育问题提供指导，以及回应个人和家庭的需求。
