FFI-009

Insonnia familiare fatale (FFI)

欧洲 50岁 女 英国 Total Cost: 139

Patient Condition

La mutazione PRNP D178N (129M omozigote), madre e zio sono entrambi morti di FFI. Insonnia progressiva per 9 mesi, accompagnata da grave disfunzione autonoma (ipotensione ortostatica, anidrosi, costipazione) e depressione.

Treatment Timeline

PhaseDetailsDate
Symptom control and sleep induction
Immunomodulation and symptomatic treatment
Long-term maintenance and palliative care

Treatment Outcome

beforeTST 40分钟/24h,CASS 15分,严重直立性低血压(卧立位血压差>40mmHg)
afterTST改善至105分钟/24h,CASS改善至11分,直立性低血压改善(卧立位血压差<25mmHg)
highlight氟伏沙明联合自主神经功能管理有效改善了睡眠和心血管自主神经调节,综合睡眠管理进一步提升了生活质量