家族性澱粉樣物多發性神經病變(英文:Familial amyloid polyneuropathy,簡稱FAP)是一種常染色體顯性遺傳病,是致命且無法根治的神經病變,由葡萄牙神經學家Corino da Costa Andrade於1952年首先發現。患者肝臟缺乏一種分解澱粉樣蛋白的酶,導致澱粉樣蛋白不正常地累積,影響神經系統、心臟及其他器官的功能,通常在40歲前會因心臟衰竭而死亡。
參考資料
- [http://hk.news.yahoo.com/article/100821/4/jte3.html 罕見遺傳病 毒素積聚致死 家族性澱粉樣物多發性神經病變],《明報》,2010年8月22日
外部連結
- [https://web.archive.org/web/20150128131932/http://apollotrial.com/ World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP)]
- [https://web.archive.org/web/20150702015737/http://ttrstudy.com/ Study for Familial Amyloid Polyneuropathy FAP]
- [https://www.ncbi.nlm.nih.gov/books/NBK1194/ GeneReviews/NIH/NCBI/UW entry on Familial Transthyretin Amyloidosis]
- [https://stanfordhospital.org/clinicsmedServices/COE/heart/DiseasesConditions/amyloid/ Stanford University Amyloid Center]
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- [https://www.paramiloidose.com Portuguese Paramyloidosis Association (in Portuguese)]
- [https://web.archive.org/web/20061013085426/http://www.paramiloidose.org/ Center for study and support for Paramyloidosis (in Portuguese)]
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