结节性硬化症

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结节性硬化症
一名结节性硬化症患者，面部出现典型的蝴蝶状血管纤维瘤
类型常染色体显性遗传疾病[*]、斑痣性错构瘤病、malformation of cortical development, Group I[*]、症候群、疾病
分类和外部资源
醫學專科醫學遺傳學、​神經學
ICD-11LD2D.2
ICD-10Q85.1
ICD-9-CM759.5
OMIM191100
DiseasesDB13433
MedlinePlus000787
eMedicineneuro/386 derm/438 ped/2796 radio/723
MeSHD014402
Orphanet805
[编辑此条目的维基数据]

结节性硬化症（英語：tuberous sclerosis complex，缩写作 TSC）是一种罕见的多系统先天性疾病，会在脑部、心脏、肾脏、皮肤及其他器官出现良性肿瘤，因此病患可能出現癲癇、發育遲緩或者臉上皮脂腺瘤等症狀。[1]本病在每十萬人中，約有7至12人發病[2]。


研究显示，雷帕霉素及其類似物依维莫司对于结节性硬化症具疗效。数个研究确定性指出mTOR抑制剂可缓解结节性硬化症，特别是儿童的室管膜下巨细胞星形细胞瘤及成人的血管平滑肌脂肪瘤。美国在进行许多涉及结节性硬化症的雷帕霉素类似物儿童及成人临床试验。[3] 大多数研究已注意到停止治疗后肿瘤将会复发。理论上来说，它可改善如面部血管纤维瘤、儿童多动症及自闭症等结节性硬化症症状，但这些研究还处于动物试验阶段。

参考文献

  1. ^ 魏怡嘉. 結節硬化症整合門診 病患免奔波苦. 自由電子報. 2014-03-16 [2014-03-17]. （原始内容存档于2014-03-16） （中文（臺灣））. 
  2. ^ O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet. May 1998, 351 (9114): 1490. PMID 9605811. S2CID 9262685. doi:10.1016/S0140-6736(05)78872-3. 
  3. ^ Tuberous Sclerosis Alliance. Current Clinical Trials. October 2009 [2009-10-14]. （原始内容存档于2009-01-22）. 

外部連結

维基共享资源上的相关多媒体资源：结节性硬化症

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