Sundstrom Dianne G, Dreher H Michael
University of Pennsylvania, USA.
J Neurosci Nurs. 2003 Dec;35(6):300-5. doi: 10.1097/01376517-200312000-00003.
Fatal familial insomnia (FFI) is an inherited disease caused by a mutation in the protein prion gene. Symptoms of FFI closely resemble those of familial Creutzfeldt-Jakob disease, making genetic testing and histological examination of brain tissue the only means to determine a definitive diagnosis. The disease is rare--approximately 60 cases have been detected worldwide since 1986. Incubation time of the disease may be as long as 30 years; death generally occurs within 1 year of the onset of symptoms. There is no known procedure or treatment for delaying the onset of symptoms or modifying the disease course. Nurses who confront patients with FFI will be challenged to provide care to a patient and family who are facing certain death.
致死性家族性失眠症（FFI）是一种由朊蛋白基因突变引起的遗传性疾病。FFI的症状与家族性克雅氏病极为相似，这使得基因检测和脑组织的组织学检查成为确诊的唯一手段。该疾病较为罕见——自1986年以来，全球已检测到约60例病例。该病的潜伏期可能长达30年；死亡通常在症状出现后1年内发生。目前尚无已知的程序或治疗方法来延迟症状发作或改变疾病进程。照顾FFI患者的护士将面临挑战，需要为面临必死结局的患者及其家人提供护理。
