家族性澱粉樣物多發性神經病變
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。
家族性澱粉樣物多發性神經病變 | |
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类型 | 淀粉样变, familial amyloid neuropathy[*], autosomal dominant disease[*], hereditary ATTR amyloidosis[*] |
分类和外部资源 | |
OMIM | 105210 |
eMedicine | 335301 |
Orphanet | 85451、85447 |
參考資料
- 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 页面存档备份,存于,《明報》,2010年8月22日
外部連結
- World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP)
- Study for Familial Amyloid Polyneuropathy FAP
- GeneReviews/NIH/NCBI/UW entry on Familial Transthyretin Amyloidosis 页面存档备份,存于
- Stanford University Amyloid Center 页面存档备份,存于
- Sousa MM, Du Yan S, Fernandes R, Guimaraes A, Stern D, Saraiva MJ. . J. Neurosci. October 2001, 21 (19): 7576–86. PMID 11567048.
- Portuguese Paramyloidosis Association (in Portuguese) 页面存档备份,存于
- Center for study and support for Paramyloidosis (in Portuguese)
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