结节性硬化症（，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。本病在每十萬人中，約有7至12人發病。
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。
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
外部連結
- [https://tscahk.org/ 香港結節性硬化症協會]
- [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=tuberous-sclerosisa GeneReview/NCBI/NIH/UW entry on Tuberous Sclerosis Complex]
- The [http://www.tsalliance.org/ 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 [https://web.archive.org/web/20060310224421/http://www.gene.ucl.ac.uk/nomenclature/data/get_data.php?hgnc_id=HGNC:12362 TSC1] and [https://web.archive.org/web/20060310224436/http://www.gene.ucl.ac.uk/nomenclature/data/get_data.php?hgnc_id=HGNC:12363 TSC2] provide a selection of links for further genetic research.
- The [http://www.childhooddiseases.org/ Rothberg Institute For Childhood Diseases] have a distributed computing project called CommunityTSC
*[http://dermatlas.med.jhmi.edu/derm/result.cfm?Diagnosis=189 Dermatlas: Images of Tuberous sclerosis]
- Mass General Hospital's [http://www.massgeneral.org/livingwithtsc/ Living with TSC]
- The [http://www.tuberous-sclerosis.org/ Tuberous Sclerosis Association] in the UK has a comprehensive Web site
- [http://www.cancer.net/cancer-types/tuberous-sclerosis-syndrome Cancer.Net: Tuberous Sclerosis Syndrome]
参见
- 罕見疾病
- 结节病
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