结节性硬化症
维基百科，自由的百科全书
| 结节性硬化症 | |
|---|---|
| 分類系統及外部資源 | |
 A case of tuberous sclerosis showing facial angiofibromas in characteristic butterfly pattern |
|
| ICD-10 | Q85.1 |
| ICD-9 | 759.5 |
| OMIM | 191100 |
| DiseasesDB | 13433 |
| MedlinePlus | 000787 |
| eMedicine | neuro/386 derm/438 ped/2796 radio/723 |
| MeSH | D014402 |
结节性硬化症（tuberous sclerosis complex，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。研究显示，雷帕霉素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。[1]
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。
参考资料 [编辑]
- ^ Tuberous Sclerosis Alliance. Current Clinical Trials. 2009.October [2009-10-14].
外部連結 [编辑]
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维基共享资源中相关的多媒体资源：结节性硬化症 |
- GeneReview/NCBI/NIH/UW entry on Tuberous Sclerosis Complex
- The Tuberous Sclerosis Alliance in the United States offers a comprehensive Web site, online discussion groups, and free publications.
- The HUGO Gene Nomenclature Committee web pages for TSC1 and TSC2 provide a selection of links for further genetic research.
- The Rothberg Institute For Childhood Diseases have a distributed computing project called CommunityTSC
- Dermatlas: Images of Tuberous sclerosis
- Mass General Hospital's Living with TSC
- The Tuberous Sclerosis Association in the UK has a comprehensive Web site
- Cancer.Net: Tuberous Sclerosis Syndrome
