遗传性朊病毒病--致命的家族性失眠症(临床病例)

T. Sorokovikova, A. Morozov, A. Kryukova, S. Naumova, A. V. Mitropolskaya
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摘要

背景介绍致命性家族性失眠症是一种罕见的遗传性神经退行性疾病,属于朊病毒疾病的一种。其主要病因是PRNP基因的常染色体显性D178N突变,该突变导致病理性朊病毒蛋白PrP的合成。以一个临床病例为例,描述一个青少年致命性家族性失眠症早期发病的实例,以及其治疗的临床实例。女性患者 V.,16 岁,虚弱体质,营养不良,家族病史阴性(祖母患有多发性硬化症),首次就诊于特维尔的一名神经科医生,主诉睡眠浅,睡眠时间缩短至 4-5 小时,全身无特异性疼痛,上肢周期性麻木。6 个月后,出现了语言和动作迟缓、步态改变和有意震颤;睡眠时间缩短至 2 小时。此后,该少年失去了独立保持身体垂直姿势的能力,失去了在没有帮助的情况下行走的能力,语言表达能力下降到只能用音节回答问题。为了验证诊断结果并与其他神经退行性疾病进行鉴别诊断,该女孩接受了辅助研究方法:核抗原抗体检测、磁共振成像、计算机脑电图、多体基因组测序。根据病史、主诉、临床表现和基因研究结果,最终诊断为致命性家族性失眠症。由于缺乏病因和病理治疗,患者随后接受了姑息治疗。患者在发病 19 个月后死亡。本临床病例反映了罕见遗传病患者管理的复杂性,证实了有必要进行强制性多染色体基因组测序以核实诊断,从而及时提供姑息治疗。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic prion disease – fatal familial insomnia (clinical case)
Background. Fatal familial insomnia is a rare genetically determined neurodegenerative disorder from the group of prion diseases. Its main cause is the autosomal dominant D178N mutation of the PRNP gene, which leads to the synthesis of the pathological prion protein PrP.The aim. Using the example of a clinical case to describe an example of the early onset of fatal familial insomnia in a teenager, a clinical example of its management.Materials and methods. Female patient V., 16 years old, of hyposthenic constitution, undernourished, with negative family history (multiple sclerosis in her paternal grandmother) for the first time consulted a neurologist in Tver for the complaints of superficial sleep, shortened to 4–5 hours, unspecific pain all over the body, periodic numbness in the upper limbs. Six months later, retardation of speech and movements, changes in gait, and intentional tremor occurred; sleep was shortened to 2 hours. In the future, the teenager lost the ability to independently maintain the vertical body position, the ability to walk without assistance, speech was reduced to syllable answers to questions. In order to verify the diagnosis and to carry out differential diagnosis with other neurodegenerative diseases, the girl underwent auxiliary research methods: detection of antibodies to nuclear antigens, magnetic resonance imaging, computer electroencephalography, polyexomal genome sequencing.Results. Based on the anamnesis, complaints, clinical picture and results of genetic research the final diagnosis of fatal familial insomnia was made. Due to the lack of etiological and pathogenetic therapy, the patient was subsequently provided with palliative medical care. The fatal outcome occurred 19 months after the onset of the disease.Conclusions. The presented clinical case reflects the complexity of managing patients with rare genetic diseases, confirms the need for mandatory polyexomal genome sequencing in order to verify the diagnosis, which allows timely palliative care
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