结节性硬化症突破性疗法：西罗莫司凝胶

2018-04-23 MedSci MedSci原创

结节性硬化症（TSC）是一种罕见的顽固性疾病，TSC是由TSC1（hamartin）和TSC2（tuberin）基因中的突变引起的遗传性常染色体显性疾病。TSC1和TSC2肿瘤抑制基因中的突变引起mTORC1的超活化，能够在众多器官如脑，皮肤，肾脏和肺中发展为错构瘤的肿瘤性病变。

结节性硬化症（TSC）是一种罕见的顽固性疾病，TSC是由TSC1（hamartin）和TSC2（tuberin）基因中的突变引起的遗传性常染色体显性疾病。TSC1和TSC2肿瘤抑制基因中的突变引起mTORC1的超活化，能够在众多器官如脑，皮肤，肾脏和肺中发展为错构瘤的肿瘤性病变。

TSC的症状包括癫痫、学习障碍、发育迟缓、自闭症和错构瘤，出血、继发性细菌感染、疼痛和与病变相关的功能紊乱导致患者极度痛苦。在各种症状中，超过90％的TSC患者出现皮肤问题，例如面部血管纤维瘤，出于美容原因严重危害他们的生活质量。然而，目前已确立的疗法仅限于手术治疗，这对于无法进行全身麻醉的儿童患者是难以实现的。

尽管西罗莫司（雷帕霉素）的全身给药能够降低TSC中的肿瘤体积，然而全身治疗可能会造成不良影响。因此，由Mari Wataya-Kaneda领导的研究小组继续研究和开发mTORC1抑制剂的局部凝胶作为安全的治疗剂，考虑局部使用西罗莫司制剂以增强有效成分的吸收。这种外用西罗莫司凝胶是目前唯一可局部应用于TSC皮肤损伤的药物，具有安全、无痛、易于使用等众多优点。

原始出处：

https://www.europeanpharmaceuticalreview.com/news/74377/sirolimus-gel-tuberous-sclerosis-complex

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2022-05-24 清风徐来2022

#结节性硬化症#

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2018-11-29 30397604

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2018-05-16 crystal0572

#结节性#

51 0
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2018-04-25 ms3415360956839622

#西罗莫司#

51 0
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2018-04-25 lishizhe

#凝胶#

47 0
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2018-04-25 zhwj

#突破性疗法#

29 0
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2018-04-24 明月清辉

谢谢分享.学习了

81 0
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2018-04-24 1209e435m98(暂无昵称)

学习了.谢谢分享

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