Patient Condition
El paciente es portador de la mutación del gen PRNP D178N (129M homozigoto), con 3 casos de FFI en la familia. Queja principal: insomnio progresivo durante 6 meses, acompañado de disfunción autónoma (taquicardia, hipertensión, hiperhidrosis) y marcha ataxica.
Treatment Timeline
| Phase | Details | Date |
| Symptom control and sleep induction | | |
| Immunomodulation and symptomatic treatment | | |
| Long-term maintenance and palliative care | | |
Treatment Outcome
| before | TST 48分钟/24h,CASS评分12分,MMSE 22分,无法独立行走 |
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| after | TST改善至120分钟/24h(药物镇静下),自主神经症状部分控制,生存期延长至18个月 |
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| highlight | 通过多学科姑息治疗团队管理,有效缓解了患者痛苦症状,改善了终末期生活质量,总生存期达18个月 |