▌药物治疗1.洛那法尼:2020年,美国食品药品监督管理局(FDA)批准洛那法尼上市,用于治疗早衰症及相关综合征。洛那法尼是具有口服活性的法尼基转移酶抑制剂,通过阻止部分早老蛋白的产生,从而降低这些蛋白在患病儿童细胞中的蓄积量,延长患儿寿命。一项接受药物治疗的62名儿童的临床试验表明,与另一项未服用药物的81名儿童的数据相比,洛那法尼在治疗的前3年使患病儿童的平均寿命延长了约3个月,而接受治疗长达11年的患病儿童,平均寿命延长了约2.5年。2.依维莫司:一种mTOR抑制剂,也可以帮助激活自噬信号通路降解细胞内的早衰蛋白。3.其他药物:外生的端粒酶反转录酶/人端粒酶催化亚单位;奥替普拉(NRF2激动剂);小剂量阿司匹林有助于延缓心脏病发作和中风。▌干细胞与基因治疗目前的基因治疗主要有2种研究方向,即通过提取并诱导出HGPS患者的iPSCs,采用同源重组手段纠正其LMNA突变;通过基因治疗抑制或去除突变位点。小结:HGPS是一种非常罕见且致命的染色体遗传疾病,目前的治疗手段多数不能完全阻止疾病的进展且安全性不高。但随着越来越多科研人员对此病的关注,新的研究也在如火如荼地开展。莱斯利和山姆的故事令人动容,我们也希望每一个患儿都能在阳光下快乐成长,每一个HGPS患儿的母亲都不再难过。参考文献:[1]余佳,杨文利,闫洁,等.儿童Hutchinson-Gilford早老症六例分析.中华内分泌代谢杂志,2020,36(01):25-30.DOI:10.3760/cma.j.issn.1000-6699.2020.01.003[2]赵晓妮,杨帆,马慧,等.三维超声心动图评价儿童早老症儿童左心室收缩功能[J].中华超声影像学杂志,2016,25(11):921-925.[3]余琴梅,王晶晶,马晓晖,等.儿童早老症儿童并发脑卒中的报道并文献复习[J].中国临床案例成果数据库,2022,04(01):E01382-E01382.[4]Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8.[5]夏天卫,王芳,周国威,等.核纤层蛋白与Hutchinson-Gilford早老症的研究进展.中华老年医学杂志,2019,38(3):336-340.DOI:10.3760/cma.j.issn.0254-9026.2019.03.027本文首发:医学界罕见病频道本文作者:暗生崎乐责任编辑:CiCi医学界力求其发表内容在审核通过时的准确可靠,但并不对已发表内容的适时性,以及所引用资料(如有)的准确性和完整性等作出任何承诺和保证,亦不承担因该些内容已过时、所引用资料可能的不准确或不完整等情况引起的任何责任。请相关各方在采用或者以此作为决策依据时另行核查。仅供医学专业人士阅读参考
My wife and i ended up being very satisfied Emmanuel managed to carry out his homework with the precious recommendations he made using your web pages. It is now and again perplexing to just possibly be handing out information and facts. And we fully understand we have you to thank because of that. The most important illustrations you have made, the straightforward blog menu, the relationships you can assist to engender – it is many great, and it’s really facilitating our son in addition to the family believe that this article is amusing, and that’s quite vital. Thanks for all!
Write more, thats all I have to say. Literally, it seems as though you relied on the video to make your point.
You clearly know what youre talking about, why throw
away your intelligence on just posting videos to your site when you could be giving us something enlightening to
read?
Thank you SurgeGraph. Only at streamingmedics.cn/category/streaming-events-for-medics-only/ this category we use videos (for medics only), further health explain videos welcome follow our youtube / douyin channel (StreamingMedics)
My wife and i ended up being very satisfied Emmanuel managed to carry out his homework with the precious recommendations he made using your web pages. It is now and again perplexing to just possibly be handing out information and facts. And we fully understand we have you to thank because of that. The most important illustrations you have made, the straightforward blog menu, the relationships you can assist to engender – it is many great, and it’s really facilitating our son in addition to the family believe that this article is amusing, and that’s quite vital. Thanks for all!
Write more, thats all I have to say. Literally, it seems as though you relied on the video to make your point.
You clearly know what youre talking about, why throw
away your intelligence on just posting videos to your site when you could be giving us something enlightening to
read?
Thank you SurgeGraph. Only at streamingmedics.cn/category/streaming-events-for-medics-only/ this category we use videos (for medics only), further health explain videos welcome follow our youtube / douyin channel (StreamingMedics)